Homologous recombination deficiency gene panel analysis results in synchronous endometrial and ovarian cancers

SUMMARY OBJECTIVE: The objective of this study was to analyze the genetic alterations of tumors within the scope of the homologous recombination deficiency gene panel in patients diagnosed with synchronous endometrial ovarian cancer who have been followed for over 5 years using next-generation sequencing. METHODS: DNA was isolated from the patient's formalin-fixed, paraffin-embedded tissue blocks. Next-generation sequencing was performed using the Illumina capture-based sequencing method. Samples were sequenced using the Sophia HR Solution DNA Kit. RESULTS: Seven patients were included in this study. The ratios of likely pathogenic (LP)/pathogenic (P) somatic mutations in ATM (serine/threonine kinase or Ataxia-telangiectasia mutated gene), BRCA2 (breast cancer type 2 susceptibility gene), BARD1 (BRCA1 associated RING domain 1), TP53 (tumor protein p53), BIRP1 (BRCA1-interacting helicase 1 gene), PALB2 (partner and localizer of BRCA2), and CHECK2 were 21 (48.8%), 8 (18.6%), 5 (11.6%), 3 (6.9%), 2 (4.6%), 2 (4.6%), and 2 (4.6%), respectively, in endometrium, and the ratios of somatic mutations in ATM, BRCA2, TP53, BARD1, RAD54L (DNA repair/recombination protein like), BIRP1, and RAD51D (RAD51 recombinase paralog D) were 24 (60%), 6 (15%), 5 (12.5%), 2 (5%), 2 (5%), 1 (2.5%), and 1 (2.5%), respectively, in ovary. In endometrioid-synchronous endometrial ovarian cancer cases, P/LP mutations were observed in ATM and CHECK2 genes in endometrium and ATM, BRCA2, and TP53 genes in ovary. In two non-endometrioid-synchronous endometrial ovarian cancer cases, CHEK2 (checkpoint kinase 2) mutations were observed in endometrium and ATM and TP53 mutations in ovary, whereas in one case, P/LP mutations in ATM and TP53 genes were common in both tissues. CONCLUSION: Pathogenic variations confirming the diagnosis of synchronous endometrial ovarian cancer with genetic alterations were identified in all but one case. ATM gene mutation emerged as the most common alteration and has a potential association with a favorable prognosis.

Prevalencia de hipertirotropinemia neonatal comoindicador de deficiencia de yodo en la provincia de La Pampa: un análisis epidemiológico / Prevalence of high neonatal thyroid stimulating hormone levels as an indicator of iodine deficiency in the province of La Pampa: An epidemiological analysis

Introducción. El yodo desempeña un rol fundamental en el metabolismo, el crecimiento y el desarrollo humano. Durante el embarazo y la infancia, la demanda de este micronutriente aumenta considerablemente. La tirotropinemia neonatal (TSHn) aumentada, definida como TSHn ≥5 mUI/l, es un marcador que señala la deficiencia de yodo en una población cuando su prevalencia supera el 3 %. Objetivo. Determinar la prevalencia de TSHn ≥ 5 en La Pampa durante el período 2021-2022, analizar su correlación con diferentes variables y compararla con datos de una cohorte histórica. Población y métodos. Estudio transversal, de diseño descriptivo-analítico, sobre una población de neonatos nacidos en las cinco zonas sanitarias de la provincia de La Pampa durante los años 2021 y 2022. Resultados. De los 5778 neonatos evaluados, el 9,6 % presentó niveles de TSHn ≥5 mUI/l. El 70,4 % de estas mediciones fueron realizadas después del tercer día de vida. No se observaron diferencias significativas en la frecuencia de niveles elevados de TSHn según el año de nacimiento, peso al nacer o días hasta la extracción. Se registró una mayor prevalencia en el sexo masculino (10,6 % versus 8,5 %; p = 0,007) y entre los neonatos nacidos a término (9,8 % versus 6,6 %; p = 0,02). La prevalencia de hipertirotropinemia fue superior a la observada en una cohorte de 2001-2002. Conclusiones. La prevalencia de hipertirotropinemia neonatal en La Pampa durante los años 2021 y 2022 fue del 9,6 %, lo que indica un estado de deficiencia leve de yodo en la provincia, superior al reportado hace dos décadas.

Introduction. Iodine plays a key role in human metabolism, growth, and development. During pregnancy and childhood, the demand for this micronutrient increases notably. Increased neonatal thyroid stimulating hormone (nTSH) levels, defined as nTSH ≥ 5 mIUL, are a marker of iodine deficiency in a population if its prevalence is higher than 3%.Objective. To establish the prevalence of nTSH ≥ 5 in La Pampa in the 2021­2022 period, analyze its correlation with different variables, and compare it with data from a historical cohort.Population and methods. Cross-sectional, descriptive-analytical study in a population of newborn infants born in the 5 health regions of the province of La Pampa in 2021 and 2022. Results. Of  the  5778  assessed  newborn  infants,  9.6%  had  nTSH  levels  ≥  5  mIU/L. It was reported that 70.4% of these measurements were done after the third day of life. No significant differences were observed in the frequency of high nTSH levels by year of birth, birth weight, or days until samplecollection.A higher prevalence was observed among male infants (10.6% versus 8.5%; p = 0.007) and term infants (9.8% versus 6.6%; p = 0.02). The prevalence of high TSH levels was superior to that observed in the 2001­2002 cohort. Conclusions. The  prevalence of high nTSH levels in La Pampa during 2021 and 2022 was 9.6%, suggesting the presence of mild iodine deficiency in the population of this province, higher that what  had been reported 2 decades ago.

Clay ingestion induced hypokalemic paralysis: a rare case report in an elderly female with severe iron deficiency anemia

Hypokalemic paralysis is a rare neuromuscular disorder characterized by painless muscle weakness resulting from low potassium levels, most commonly presenting during adolescence. In this case report, we detail the presentation and management of an 80-year-old female who experienced sudden onset bilateral limb weakness. Initial clinical assessment revealed the absence of reflexes and hypotonia in all four limbs without any gastrointestinal or neurological symptoms. Comprehensive diagnostic evaluation identified severe iron deficiency anemia and an unusual history of clay ingestion due to pica as the underlying causes of her hypokalemic paralysis. Treatment included intravenous and oral potassium supplementation, as well as packed cell volume transfusions, leading to a significant improvement in her symptoms and normalization of her potassium levels. This case highlights the need to consider atypical etiologies, such as pica-induced clay ingestion, in the differential diagnosis of hypokalemic paralysis, particularly in elderly patients with nutritional deficiencies. Early recognition and appropriate management are critical for favourable outcomes.

Successful management of severe anaemia in pregnancy: a rare case report

Severe anaemia in pregnancy is associated with high maternal and perinatal morbidity and mortality. The life-threatening complications associated with severe anaemia in pregnancy were averted in this case due to the astute management and multidisciplinary approach employed involving the hematologist, dietician, and obstetrician. We report a rare case of a 33-year-old pregnant woman with three living children who presented with severe anaemia, characterized by a hematocrit of 8% (haemoglobin of 2.5 g/dl) in her early second trimester of pregnancy. The peripheral blood smear revealed mixed nutritional deficiency anemia, while the bone marrow aspirate showed megaloblastic changes. She received blood transfusions, haematinics, vitamin supplements, and adequate nutrition. Following discharge, she attended weekly antenatal clinics with antenatal fetal surveillance until term. At term, she was induced and had vaginal delivery of a healthy baby. She was discharged healthy with her baby and had bilateral tubal ligation at 6 weeks postpartum for a completed family size. This case shows that the morbidities and mortalities associated with severe anaemia in pregnancy are preventable with good multidisciplinary clinical management. The severity of this anemia, her remarkable recovery, and successful outcome make this a rare and noteworthy case report.

Relationship of vitamin D deficiency and gestational diabetes mellitus in pregnant women

Background: Gestational diabetes mellitus (GDM) is a common metabolic disorder among pregnant women. It is important to be diagnosed and treated early to minimize complications for both the mother and the foetus. Recent studies found that deficiency of vitamin D is a risk factor for GDM and its supplementation may be helpful in prevention of GDM. Objectives were to assess vitamin D status in pregnant women with or without GDM and to find out the association between vitamin D deficiency and GDM.Methods: A total of 400 patients were included in the study, 200 pregnant women diagnosed with GDM and 200 normoglycemic pregnant women. Serum 25 (OH) vitamin D concentration in these women were compared.Results: Only 6.75% of women were found to have normal vitamin D levels, all others having either insufficiency 18.5% or deficiency 74.75%. In case group around 79% of women had vitamin D deficiency, 70.5% in control group. In case group around 14.5% of women had vitamin D insufficiency, 22.5% in control group. In both case and control group around 6.5% and 7% of women were within the normal range respectively. Mean vitamin D is 14.3 ng/ml in case group and 15.4 ng/ml in control group.Conclusion: Prevalence of vitamin D deficiency is alarmingly high in pregnant women in India and has become a re-emerging public health issue and needs to be addressed.

Safety and efficacy of ferric carboxymaltose in management of iron deficiency anemia in pregnant and peripartum women

Background: Anemia during pregnancy, often attributed to iron deficiency, poses substantial risks to both maternal and fetal health. This retrospective study aims to evaluate the safety and efficacy of intravenous ferric carboxymaltose (FCM) in managing anemia among pregnant women.Methods: The study encompasses women who received FCM treatment for anemia during pregnancy between October 2023 and March 2024 at SSG hospital, Vadodara. Key outcomes evaluated include maternal safety and pregnancy outcomes. Prospective observational study; Treatment effectiveness was assessed by repeat hemoglobin (Hb) measurements and patient report of well-being in the postpartum period. Safety was assessed by analysis of adverse drug reactions and fetal heart rate monitoring during the infusion.Results: A total of 50 patients were included. The intravenous administration of FCM notably raised hemoglobin levels in all pregnant female participants compared to initial levels. Monitoring of fetal heart rate showed no adverse effects attributable to the medication. No severe side effects were observed.Conclusions: This prospective observational study suggests that FCM represents a safe and effective therapeutic option for managing anemia during pregnancy. Despite study limitations, the findings underscore the potential of FCM in addressing this prevalent concern, advocating for its consideration in clinical practice.

Systemic autoinflammatory disease, IgA glomerulonephritis and renal cortical necrosis: coincidence or causation? / Enfermedad autoinflamatoria sistémica, glomerulonefritis por IgA y necrosis cortical renal: ¿causalidad o casualidad?

Abstract We present a patient with a rare systemic autoinflam matory disease (mevalonate kinase deficiency -MKD-) with the identification of two heterozygous variants (c.1129G>A and c.32C>T) in the Mevalonate Kinase gene, detected by next generation sequencing and a highly prevalent glomerulonephritis (IgA nephropathy). The patient presents clinically with a monthly recurrent periodic fever from 12 days of age, accompanied by mucocutaneous lesions (maculopapular rash in ex tremities, aphthous stomatitis), joint (arthralgias in ankles, wrists and knees), lymphoid (cervical lymph adenopathy, splenomegaly), gastrointestinal (diarrhea, abdominal pain) and kidney (hematuria and protei-nuria) with repeated biopsies showing IgA nephropathy alternating activity with chronicity. During follow-up. The patients presented a poor therapeutic response to multiple immunosuppressive regimens used for 7 years (corticosteroids, azathioprine, mycophenolate, cyclo phosphamide, rituximab and tocilizumab), and finally a good response to canakinumab. Four years after starting canakinumab, during the course of an infection due to a muscle abscess, the clinical presentation is complicated by a severe renal microvascular event (renal cortical necrosis -RCN-) with acute kidney injury and dialysis requirement. Therecurrent episodes of inflammation due to MKD could act as triggers for the reactivation of glomerulonephritis (which would explain the poor response to immunosuppressants and the rapid pro gression to histological chronicity) and to generate a microenvironment that predisposes the development of RCN in the face of a non-serious infection. A defect in IgA molecules has been described in MKD, a phenom enon also observed in IgA nephropathy. This raises the challenging hypothesis of a common pathogenetic link between all the patient's clinical manifestations.

Resumen Presentamos un paciente con una rara enfermedad autoinflamatoria sistémica (deficiencia de mevalonato quinasa -DMQ-) con la identificación de dos variantes heterocigotas (c.1129G>A y c.32C>T) en el gen Meval onato Quinasa, detectadas por secuenciación masiva en paralelo y una glomerulonefritis de alta prevalencia (nefropatía por IgA). El paciente presentó un cuadro de fiebre periódica recurrente mensual desde los 12 días de vida, acompañada de lesiones mucocutáneas (rash maculopapular en extremidades, estomatitis aftosa), compromiso articular (artralgias en tobillos, muñecas y rodillas), linfoideo (linfoadenopatía cervical, esplenome galia), gastrointestinal (diarrea, dolor abdominal) y renal (hematuria y proteinuria) con repetidas biospias most rando nefropatía por IgA alternando actividad y cronic idad. Durante el seguimiento, tuvo una pobre respuesta terapéutica a múltiples esquemas inmunosupresores utilizados durante 7 años (corticoides, azatrioprina, micofenolato, ciclofosfamida, rituximab y tocilizumab), y buena respuesta finalmente a canakinumab. Cuatro años posteriores al inicio de canakinumab, durante el curso de una infección por un absceso muscular, el cuadro clínico se complica con un evento microvascular renal grave (necrosis cortical renal -NCR-) con fallo renal agudo y necesidad de diálisis. Los episodios recurrentes de inflamación por la DMQ podrían actuar como gatil los para la reactivación de su glomerulonefritis (lo que explicaría la escasa respuesta a inmunosupresores y la progresión rápida a cronicidad histológica) y para gen erar un microambiente que predisponga el desarrollo de una NCR ante una infección no grave. En la DMQ se ha descripto un defecto en las moléculas de IgA, fenómeno también observado en la nefropatía por IgA. Esto plantea la desafiante hipótesis de un vínculo patogénico común entre todas las manifestaciones clínicas del paciente.

Púrpura fulminante postinfecciosa: a propósito de un caso / Postinfectious purpura fulminans: A case report

La púrpura fulminante adquirida postinfecciosa es una entidad aguda y grave, poco frecuente, caracterizada por necrosis cutánea asociada a coagulopatía intravascular diseminada (CID), en ausencia de infección activa o alteraciones previas de la coagulación. Afecta fundamentalmente a la población pediátrica y, en el 90 % de los casos, está precedida por un proceso infeccioso. El mecanismo fisiopatológico es un déficit transitorio de proteína S mediado por autoanticuerpos que favorece un estado de hipercoagulabilidad. Se presenta el caso de un varón de 8 años previamente sano, con lesiones cutáneas purpúricas características de púrpura fulminante asociada a CID en ausencia de sepsis. Se constató deficiencia plasmática transitoria de proteína S. Requirió tratamiento sustitutivo con plasma fresco congelado y anticoagulación; la evolución fue favorable. La actividad de la proteína S permaneció disminuida durante 2 meses.

Acquired postinfectious purpura fulminans is a rare, acute, and severe disease characterized by skin necrosis associated with disseminated intravascular coagulation (DIC) in the absence of active infection or previous coagulation disorders. It mainly affects the pediatric population and, in 90% of cases, it is preceded by an infectious process. The pathophysiological mechanism is a transient autoantibodymediated protein S deficiency that favors a hypercoagulable state. Here we describe the case of a previously healthy 8-year-old boy with purpuric skin lesions typical of purpura fulminans associated with DIC in the absence of sepsis. A transient plasma protein S deficiency was confirmed. He required replacement therapy with fresh frozen plasma and anticoagulation; he had a favorable course. Protein S activity remained decreased for 2 months.

A treatable early onset epileptic encephalopathy: pyridoxamine 5'-phosphate oxidase deficiency

Pyridox (am) ine 5'-phosphate oxidase (PNPO) deficiency is a rare epileptic encephalopathy condition due to mutations in PNPO gene. It is one of treatable metabolic epilepsies. It is unresponsive to antiseizure medications, but respond to pyridoxal-5-phosphate (PLP), active form of vitamin B6. It is characterized by refractory seizures from newborn or in utero, developmental delay. Based on refractory seizures, age of onset, negative biochemical profile and response to PLP, suspect PNPO deficiency. Next generation sequencing will help in the diagnosis. Early diagnosis and early initiation of PLP will help to cessation of seizures and better neurological outcome. Here we present a case of PNPO deficiency, which is diagnosed early and noticed good response with PLP.

Etiología y evolución de la anemia en pacientes sometidos a cirugía cardiovascular / Etiology and evolution of anemia in patients submitted to cardiovascular surgery

Resumen Objetivo: El objetivo del presente estudio es evaluar en nuestro medio la prevalencia de anemia en el preoperatorio de la cirugía cardiovascular, su incidencia postoperatoria y su evolución durante el primer mes. Métodos: Se realizó un estudio de cohorte prospectivo en el que se incluyeron todos los pacientes sometidos a cirugía cardiovascular central intervenidos durante el periodo del 01/09/2021 al 01/09/2022 en un hospital universitario. Se realizó seguimiento clínico y de laboratorio previo a la cirugía, al quinto y al día treinta del postoperatorio. Se comparó a los grupos con y sin anemia preoperatoria. Resultados: La prevalencia de anemia en el preoperatorio fue del 32.1%. La incidencia de anemia en el postoperatorio fue del 96% en el grupo de pacientes sin anemia previa. Al mes de la cirugía un 73 y un 90% de los pacientes, con y sin anemia preoperatoria respectivamente, persistían anémicos. Los pacientes con anemia preoperatoria tuvieron una menor recuperación de sus valores de hemoglobina al mes. Se observó una tendencia a mayor mortalidad y una mayor necesidad de derivación a centros de rehabilitación postegreso hospitalario en aquellos con anemia preoperatoria. Conclusiones: En este trabajo se evidenció una alta prevalencia e incidencia de anemia en el perioperatorio de las cirugías cardiovasculares. Así como su subtratamiento y elevada persistencia durante el mes posterior a la cirugía.

Abstract Objective: The aim of this study is to evaluate the prevalence of anemia in the preoperative period of cardiovascular surgery, its postoperative incidence and its evolution during the first month in our setting. Methods: A prospective cohort study was carried out in which all patients undergoing central cardiovascular surgery operated during the period 09/01/2021-09/01/2022 in a university hospital were included. Clinical and laboratory follow-up was carried out prior to surgery, on the fifth and on the 30th postoperative day. Groups with and without preoperative anemia were compared. Results: The prevalence of anemia in the preoperative period was 32.1%. The incidence of anemia in the postoperative period was 96% in the group of patients without previous anemia. One month after surgery, 73 and 90% of the patients, with and without preoperative anemia, respectively, remained anemic. Patients with preoperative anemia had less recovery of their hemoglobin values at one month. A trend towards higher mortality and a greater need for referral to post-hospital discharge rehabilitation centers was observed in those with preoperative anemia. Conclusions: In this work, a high prevalence and incidence of anemia in the perioperative period of cardiovascular surgeries was evidenced. As well as its subtreatment and high persistence during the month after surgery.

Immune Deficiency/Dysregulation Associated Lymphoid Proliferations, EBV+ In Persons Living With HIV

ABSTRACT Background: The 5th edition of the World Health Organization Classification of Hematolymphoid Tumors recently defined immune deficiency/dysregulation (IDD)-associated-lymphoid-proliferations in HIV settings, where information is scarce, often gone under or misdiagnosed. Objectives: To describe the clinical picture, histopathology, and outcomes of IDD-associated-lymphoid-proliferations Epstein-Barr virus+ (EBV) in people living with HIV without organ transplantation, antiretroviral therapy (ART) treated. Methods: HIV+ patients diagnosed with IDD-associated-lymphoid-proliferations seen at an academic medical center in Mexico from 2016 to 2019 were included. Immunohistochemical studies, in situ hybridization, and polymerase chain reaction analysis for EBV and LMP1 gene deletions were performed and correlated with clinical data. Results: We included 27 patients, all men who have sex with men, median age 36 years (interquartile range [IQR] 22-54). The median baseline CD4+ T cells were 113/mL (IQR 89-243), the CD4+/CD8+ ratio was 0.15 (IQR: 0.09-0.22), and the HIV viral load was 184,280 copies/mL (IQR: 76,000-515,707). Twenty patients (74.07%) had IDD-associated-lymphoid-proliferations hyperplasia plasma cell type EBV+, 3 (11.1%) had hyperplasia mononucleosis-like type (IM-type), 1 patient (3.70%) had florid follicular hyperplasia, 3 (11.1%) IDD-associated-lymphoid-proliferations polymorphic type, and there were 22 cases (81.4%) of synchronic Kaposi Sarcoma. Two patients were diagnosed with Hodgkin lymphoma following a second positron emission tomography-computed tomography scan-guided biopsy. The median follow-up was 228 weeks (IQR 50-269); 6 patients died (22.2%) of causes unrelated to IDD-associated-lymphoid-proliferations related. Conclusion: IDD-associated-lymphoid-proliferations EBV+ occured in severely immunosuppressed HIV+ patients, a high percentage of whom had concomitant Kaposi sarcoma. The prognosis was good in patients treated only with ART.

Deficiencia de factor VII: reporte de un caso / Factor VII deficiency: a case report

Resumen Introducción: La deficiencia congénita de factor VII es una condición hereditaria extremadamente rara, con una prevalencia de 1 por cada 500,000 personas. Se estima que la verdadera prevalencia de deficiencia de FVII está subestimada, debido a que una parte considerable de los pacientes son asintomáticos. Los pacientes sintomáticos muestran manifestaciones como epistaxis, sangrado mucocutáneo, equimosis y menorragia. Caso clínico: Se presenta el caso de un paciente masculino de 33 años con historia de melena, adinamia y astenia. Niega patologías previas, pero refiere antecedentes de sangrado recurrente desde la infancia. Exámenes de laboratorio revelan anemia microcítica e hipocrómica y prolongación del tiempo de protrombina. Se realiza una prueba de mezcla debido a las alteraciones en los tiempos de coagulación y su correlación con antecedentes de sangrado. Se realizan niveles de actividad coagulante de FVIIa los cuales dan como resultado <1%, confirmando una coagulopatía hemorrágica por defecto congénito de FVII. Discusión: La deficiencia de FVII representa un trastorno congénito poco común y que, debido a su variabilidad clínica, pasa desapercibido. La sospecha clínica es necesaria para el diagnóstico y tratamiento oportunos de esta condición.

Abstract Background. Congenital factor VII deficiency is an extremely rare hereditary condition, with a prevalence of 1 in every 500,000 individuals. The true prevalence of FVII deficiency is estimated to be underestimated because a considerable number of patients are asymptomatic. Symptomatic patients may exhibit manifestations such as epistaxis, mucocutaneous bleeding, ecchymosis, and menorrhagia. Clinical case. 33-year-old male patient with a history of melena, adynamia, and asthenia. He denies previous pathologies but reports a history of recurrent bleeding since childhood. Laboratory tests reveal microcytic and hypochromic anemia, as well as prolonged prothrombin time. A mixing test is performed due to abnormalities in coagulation times and their correlation with bleeding history. Coagulant activity levels of FVIIa are measured, resulting in <1%, confirming a hemorrhagic coagulopathy due to congenital FVII deficiency. Discussion . FVII deficiency represents a rare congenital disorder that often goes unnoticed due to its clinical variability. Clinical suspicion is necessary for the timely diagnosis and treatment of this condition.

A rare nexus: G6PD deficiency's uncommon affiliation with rapidly progressive renal failure through the prism of pigment nephropathy

Acute kidney injury (AKI) with evidence of hemolysis is associated with tropical infections. However, pigment-induced AKI can happen with relatively uncommon genetic causes of hemolytic anemia, i.e., glucose 6-phosphate deficiency (G6PD). We share our experience of one such patients whose clinical presentation was rapidly progressive glomerulonephritis. On evaluation, she had a history of usage of some drugs and with G6PD estimation revealing deficient status even during the episode while other tests such as Coomb's test and bone marrow biopsy was normal. The kidney biopsy revealed diffuse tubular injury with presence of several coarse granular/pigmented casts in tubular lamina. She was managed with hemodialysis and showed complete recovery. Thus, in tropical countries G6PD deficiency although is not common, should be considered among patients who presented as rapidly progressive renal failure (RPRF) and having history of precipitating factors for G6PD deficiency and a detailed hemolytic work-up needs to be carried out as an important cause of preventable recurrent AKI in tropical countries.

Pessoas com deficiência nas aulas de educação física: um olhar sobre as atitudes dos professores / Personas com discapacidad en clases de educación física: una mirada hacia las actitudes de los profesor / People with disabilities in the physical education classes: a look at the attitudes of teachers

Esta pesquisa tem por objetivo analisar as atitudes dos professores em relação às pessoas com deficiência nas aulas de Educação Física. Participaram da pesquisa 46 professores de Educação Física, de ambos os sexos, com idade entre 26 e 54 anos, sendo utilizado um questionário de 12 questões. Os resultados mostraram que a maioria dos professores respondeu de forma otimista quanto à habilidade de lidar com os alunos com deficiência. Além disso, a maioria concorda que a interação dos alunos é benéfica para todos. Conclui-se que os participantes acreditam que a interação dos alunos com deficiência seja benéfica para o desenvolvimento dos mesmos e dos demais. Além disso, os pro-fessores demonstraram interesse em buscar conhecimentos para trabalhar com a diversidade (AU).

This research aimed to analyze the attitudes of teachers towards people with disabilities in Physical Education classes. Forty-six Physical Education teachers of both sexes, 26 - 54 years of age, participated in the study by responding to a 12-question questionnaire. The results show that most teachers responded with optimism about the ability to deal with students with disabilities. It is concluded that the participants believe that interaction with students with disabilities is beneficial for their development and that of others. In addition, teachers showed interest in seeking knowledge to work with diversity (AU).

Esta investigación tiene como objetivo analizar las actitudes de los profesores hacia las personas con discapacidad en las clases de Educación Física. Participaron de la investigación 46 profesores de Educación Física, de ambos sexos, con edades entre 26 y 54 años, utilizando un cuestionario de 12 preguntas. Los resultados mostraron que la mayoría de los docentes respondieron con optimismo con respecto a su capacidad para tratar con estudiantes con discapacidades. Además, la mayoría está de acuerdo en que la interacción de los estudiantes trae beneficios para todos. Se concluye que los participantes creen que la interacción de los estudiantes con discapacidad es beneficiosa para su desarrollo y el de los demás. Además, los docentes (AU).

Hepcidin and inflammation associated with iron deficiency in childhood obesity - A systematic review

Abstract Objectives: This paper aims to review data on the association of obesity and iron deficiency in children and adolescents, exposing the possible involvement of hepcidin and interleukin-6 (IL-6), obesity's inflammation biomarkers. Data source: Articles from PUBMED and WEB OF SCIENCE database with no chronological limit were reviewed to write this systematic review. Keywords such as children, obesity, iron deficiency, and hepcidin were used. After deleting duplicated and review articles, 91 were screened, and 39 were selected as eligible. Sixteen articles were included because they involved serum hepcidin levels in obese children and adolescents as outcomes. Summary of findings: Finally, those 16 articles were organized in two tables: one includes therapeutic interventions, and the other does not. As hepcidin was discovered in 2000, the first articles that presented serum hepcidin's quantification in obese children and adolescents, homeostasis iron markers, and their possible association with obesity's inflammatory environment began to be published in 2008. Conclusions: Obesity's chronic inflammation state leads to the production of IL-6, which acts as a signaling molecule for hepcidin synthesis, resulting in iron deficiency, which is common in obese children and adolescents who respond inadequately to iron supplementation. On the other hand, that population responds adequately to therapeutic intervention programs that lead to weight loss, guaranteeing iron homeostasis improvement. Therefore, perhaps it is time to discuss serum hepcidin level quantification as part of evaluating children and adolescents with iron deficiency, which could guide clinical choices that might lead to better therapeutic outcomes.

Factores asociados a anemia ferropénica en lactantes y preescolares / Factors associated with iron deficiency anemia in infants and preschoolers

Introducción: La anemia se define como una afección en la cual el número de glóbulos rojos o la concentración de hemoglobina dentro de estos se encuentran por debajo del límite inferior, 11 gr/dl para menores entre 6 a 59 meses. La OMS calcula que a nivel mundial la anemia presenta una prevalencia del 42% en los niños menores de 5 años. Objetivos: Realizar una revisión panorámica de diversas publicaciones científicas acerca de los factores asociados a la anemia ferropénica en preescolares. Materiales y métodos: La revisión se realizó a través de la búsqueda electrónica de diversos artículos científicos relacionados con el tema. Se utilizó la pregunta PEO: ¿Cuáles son los factores asociados a anemia ferropénica en lactantes y preescolares? Se seleccionaron los artículos publicados desde el 2017 hasta el 2022. Resultados: De los 48 artículos encontrados en la revisión, 33 fueron descartados por no cumplir con nuestros criterios de selección, quedando 15 artículos para esta revisión. Basado en 12 artículos revisados, se halló que los factores que se asocian a anemia en menores de 5 años eran por problemas socioeconómicos, déficit de micronutrientes altos en hierro en dieta, madre con antecedente de anemia, la edad materna, falta de educación, entre otros. Conclusión: Los factores predisponentes para la presencia de anemia ferropénica en los menores de 5 años más importantes fueron los relacionados con la edad materna, el nivel socioeconómico y educativo de la madre que conllevan el déficit de hierro del menor.

Introduction: Anemia is defined as a condition in which the number of red blood cells or the hemoglobin concentration within red blood cells is below the lower limit, 11 g/dL for children aged 6-59 months. The WHO estimates that worldwide anemia has a prevalence of 42% in children under 5 years of age. Objectives: To perform an overview review of various scientific publications on the factors associated with iron deficiency anemia in preschoolers. Materials and methods: The review was carried out through an electronic search of various scientific articles related to the subject. The PEO question was used: What are the factors associated with iron deficiency anemia in infants and preschoolers? Articles published from 2017 to 2022 were selected. Results: Of the 48 articles found in the review, 33 were discarded for not meeting our selection criteria, leaving 15 articles for this review. Based on 12 articles reviewed, it was found that the factors associated with anemia in children under 5 years of age were socioeconomic problems, deficiency of micronutrients high in iron in the diet, mothers with a history of anemia, maternal age, lack of education, among others. Conclusion: The most important predisposing factors for the presence of iron deficiency anemia in children under 5 years of age were those related to maternal age, socioeconomic and educational level of the mother that lead to iron deficiency in the child.

A review on vitamin B12 deficiency induced by metformin

Multiple studies have established a higher prevalence of vitamin B12 deficiency in patients who have type 2 diabetes mellitus (T2DM). Metformin is prescribed as the 1st line oral glucose-lowering medication for individuals with T2DM. However, metformin therapy has been linked to vitamin B12 malabsorption, which can result in both biochemical and clinical manifestations of vitamin B12 deficiency. The long-term use of metformin is associated with a significant decrease in vitamin B12 levels, particularly in doses greater than 2000 mg per day over a period of 4 years. Vitamin B12 is a water-soluble vitamin. It acts as a cofactor for enzymes involved in DNA synthesis and neuroprotection at the cellular level. Hence, vitamin B12 deficiency can lead to various clinical consequences, including hematologic abnormalities such as megaloblastic anemia and hypersegmented neutrophil formation, peripheral neuropathy, and progressive axonal demyelination, hyperhomocysteinemia (HHcy). The latest "standards of medical care in diabetes-2017" issued by the American diabetes association recommends periodic assessment of B12 status and, if necessary, the use of B12 replacement therapy in diabetic patients taking metformin. In order to address the vitamin B12 deficiency associated with metformin several therapies are available including prophylactic supplements of calcium and vitamin B12, discontinuation of metformin, and replenishment of vitamin B12 stores through intramuscular or oral therapy. It is important to regularly monitor vitamin B12 levels for at least annually to prevent complications of vitamin B12 deficiency and continue with supplementation if metformin is still being used.

Can India achieve UNAIDS’ target by 2030?

The world is embarking on a fast-track strategy to end the AIDS epidemic by 2030. UNAIDS is targeted towards achieving the 95-95-95 strategy by 2025. Scaling up prevention, testing and treatment services towards HIV/AIDS is paramount in achieving these targets. To understand the status of India in achieving these targets, review of trials registered in the CTRI registry was done and found that among the 155 included trials, most (n=45, 29%) of the trials were drug trails, few were vaccine trials (n=6, 3.8%). Out of 155 studies, forty-one (20%) were in line to reach UNAIDS’ targets. The primary focus of those studies was improving CD4 counts and suppression of viral load (third target of UNAIDS’) (n=12, 7.7%), and the minimal focus was on promoting treatment adherence (second target of UNAIDS’) (n=11, 7%) and promotion of HIV testing (first target of UNAIDS’) (n=4, 2.5%). As prevention is always better than care, research should be encouraged towards prevention of HIV, which in turn facilitates achieving UNAIDS’ 2025 and 2030 targets.

Examining folic acid intake: a cross-sectional study of pregnancy-related practices

Background: Folic acid supplementation during the periconceptional period is critical in preventing neural tube defects (NTDs) in the developing fetus. In Pakistan, a profound lack of awareness is seen regarding preventable pregnancy-related illnesses and the consequential high maternal and fetal mortality and morbidity rates. However, data from the surveys in the region of Sindh lacks inquiries regarding the baseline characteristics of the surveyed participants. Therefore, this study endeavoured to address this gap. Methods: Between October 2022 and April 2023, a cross-sectional study was conducted at two major tertiary care hospitals in Hyderabad and Jamshoro, Pakistan. A total of 374 participants, chosen by non-probability consecutive sampling, comprised the sample size. The association of demographic variables and knowledge, attitude, and practice of consumption of folic acid during pregnancy was determined using the ?2 test. A p value of less than 0.5 was considered statistically significant. Results: The mean age of the participants was 26.4�7 years. A total of 199 (53.20%) participants were literate, compared to 175 (46.79%) participants who were illiterate. Literate women fared better than illiterate women in all the metrics with a p-value of <0.001 and a Pearson correlation coefficient (r) of >0.7. Moreover, folic acid was consumed by only 38% of pregnant women during the periconceptional period. Conclusions: A substantial lack of knowledge regarding folic acid was found in the surveyed sample, significantly more marked in the illiterate faction. Additionally, the practice was rather unsatisfactory. However, the attitude remained encouraging.

Wernicke’s encephalopathy complicating hyperemesis gravidarum: a case series

Wernicke’s encephalopathy is an acute neuropsychiatric syndrome due to thiamine deficiency. In most cases, it is associated with alcoholism and malnutrition and rarely can be secondary to hyperemesis gravidarum and arise during the first trimester of pregnancy. The clinical signs are specific to this disorder. However, they are unknown by most clinicians, especially obstetricians, delaying treatment and leading to serious problems including maternal mortality. We report a case series of three patients diagnosed with Wernicke’s encephalopathy during the first trimester based on clinical symptoms and radiological signs in two cases and only on clinical findings in case 2. A high dose of thiamine was started intravenously in all patients and the majority of symptoms resolved. Unfortunately, case 3 died, probably to a delay of diagnosis. Given this severity even with rapid treatment, prevention measures with low doses of thiamine supplementation remain at present the best treatment and should be applied in any patient presenting with hyperemesis gravidarum.