Congenital hereditary endothelial dystrophy with progressive sensorineural deafness: a case report of Harboyan syndrome

ABSTRACT We present the case of a 37-year-old woman who underwent bilateral penetrating keratoplasty for congenital hereditary endothelial dystrophy at the age of 10 years. Over the subsequent 27 years, the patient's vision slowly deteriorated. Our examination revealed decompensation of the right corneal graft. We addressed this with regraft surgery. We then learned that the patient had been suffering from progressive hearing loss since adolescence. Tonal audiometry revealed hearing per ceptive deafness of 25 dB, which was more prominent in the left ear. Because the patterns of progressive sensorineural hearing loss and congenital hereditary endothelial dystrophy have both been linked to the same gene, slc4a11, we tested our patient for mutations in this gene. The test was positive for a heterozygous slc4a11 gene fifth exon mutation on chromosome 20p13-p12, which causes a frameshift. A combined clinical and genetic evaluation confirmed a diagnosis of Harboyan syndrome. After the genetic diagnosis of the disease, she was evaluated for the need for a hearing aid due to her hearing loss. The patient was also informed about genetic counseling.

Role of vildagliptin and its combination in type 2 diabetes mellitus management: a knowledge, attitude, and practice survey among Indian healthcare professionals

Background: Type 2 diabetes mellitus (T2DM) is a prevalent condition, with a significant burden in India, affecting approximately 74.2 million individuals. Vildagliptin, a selective dipeptidyl peptidase 4 (DPP-4) inhibitor, is approved globally for monotherapy and combination therapy. Recently, it became available as a generic product, which increased its accessibility to patients. This study aimed to assess the knowledge, attitude, and practice (KAP) regarding vildagliptin and its combination in T2DM management. Methods: A pan-India cross-sectional KAP survey was conducted from February 2022 to March 2023. The survey utilized a specially designed questionnaire focusing on various aspects of vildagliptin treatment. A total of 1,440 healthcare professionals (HCPs) with recognized qualifications and experience in diabetes management participated. Descriptive statistics were employed for data analysis. Results: HCPs reported initiating Vildagliptin monotherapy at an HbA1c 6.5-7.5%, while combination therapy with vildagliptin and metformin at HbA1c 7-8%. Vildagliptin was primarily preferred as an add-on to metformin. Inadequate HbA1c control with existing therapy emerged as the primary trigger for switching to vildagliptin and metformin combination. Treatment-na飗e T2DM patients with HbA1c 1.5% above target and those uncontrolled on metformin monotherapy or dual therapy were reported to benefit most from combination therapy. Combination therapy was reported to result in a glycemic reduction of 1.0-1.5%. HCPs perceived vildagliptin better than other DPP4 inhibitors due to its efficacy in reducing HbA1c and a lower risk of hypoglycemia. Conclusions: The KAP survey highlights the value Indian HCPs place on the effectiveness and tolerability of vildagliptin and their attitudes and practices in its use, highlighting its clinical utility in routine practice.

A randomized controlled trial to assess the efficacy of 12-hour magnesium sulphate therapy compared to 24-hour regimen on maternal outcome among patients with eclampsia admitted in a tertiary care centre

Background: Magnesium sulphate (MgSO4) is the most popular anti-convulsant drug for treatment of eclampsia. Pritchard regimen is the most widely used regime worldwide where maintenance dose of MgSO4 is administered for 24-hour after delivery or last fit (whichever is later). As the duration of MgSO4 therapy increases, the incidence of adverse effects also increases. Therefore, the present study has been conducted to compare the maternal outcome with decreased duration of MgSO4 therapy for 12-hour with that of 24 hours for patients with eclampsia. Methods: It was an experimental study which was performed as a single centered, open labelled hospital based randomized control trial. It was conducted for 2 years (December 2019 to November 2021) among the patients of eclampsia admitted at department of obstetrics and gynaecology, AGMC and GBPH. Results: No cases of recurrent seizures in either group with additional benefit of lesser adverse effect of toxicity of MgSO4 in the 12-hour group. Conclusions: In the present study, it has been seen that 12-hour MgSO4 maintenance therapy is as efficacious as standard 24 hours therapy in controlling seizure as there was no case of recurrent seizure in either group.

Importancia diagnóstica del C4d en la nefropatía membranosa / Diagnostic significance of C4d in membranous ne phropathy

Resumen Introducción : La nefropatía membranosa (NM) es la causa más frecuente de síndrome nefrótico primario en adultos (20-30%). En la microscopia óptica se obser va engrosamiento de membrana basal glomerular con aparición de espigas. Estos hallazgos histológicos no son evidentes en formas tempranas, en cuyo caso el patrón de depósito granular de IgG y/o C3 en la membrana basal por inmunofluorescencia (IF) permite diferenciarla de enfermedad por cambios mínimos (ECM). El sistema del complemento juega un papel central en la fisiopatología de la NM. C4d es producto de degradación y un marcador de la activación del complemento. La marcación con C4d en muestras de biopsias re nales, por técnica de inmunohistoquímica (IH) puede colaborar en el diagnóstico diferencial entre ambas glomerulopatías. Nuestro objetivo fue explorar el poder de discriminación del C4d para diferenciar NM de ECM en material de biopsias renales. Métodos : Se recuperaron muestras en parafina de biopsias renales con diagnóstico de NM y ECM realizados entre 1/1/2008 y 1/4/2019. Se realizaron tinciones de IH por técnica de inmunoperoxidasa con C4d usando un anticuerpo policlonal antihumano de conejo. Resultados : En todos los casos con NM (n = 27, 15 hombres) con mediana de edad de 63 (rango: 18-86) años se detectaron depósitos de C4d. En los 21 casos con ECM (12 hombres) con mediana de edad de 51 (rango: 18-87) años la marcación de C4d fue negativa. Conclusión : Los resultados indican que la marcación de la biopsia renal con C4d es una herramienta útil para el diagnóstico diferencial entre NM y ECM.

Abstract Introduction : Membranous nephropathy (MN) is the most common cause of primary nephrotic syndrome in adults (20-30%). Light microscopy shows thickening of glomerular basement membrane with appearance of spikes. These histological findings are not evident in early forms, in which case the granular deposition pattern of IgG and/or C3 in the basement membrane by immunofluorescence (IF) constitutes the diagnostic tool that allows to differentiate it from minimal change disease (MCD). Complement system plays a key role in the pathophysiology of MN. C4d is a degradation prod uct and a marker of the complement system activation. C4d labelling by immunohistochemical (HI) technique can help in the differential diagnosis between both glomerulopathies NM and MCD when the material for IF is insufficient and light microscopy is normal. Our objective was to explore the discrimination power of C4d to differentiate between MN and MCD in renal biopsy material. Methods : Paraffin-embedded samples were recovered from renal biopsies with a diagnosis of MN and MCD performed between 1/1/2008 and 4/1/2019. IH staining was performed by immunoperoxidase technique using a rabbit anti-human C4d polyclonal antibody. Results : In all cases with MN (n = 27, 15 males) with a median age of 63 (range: 18-87) years, C4d deposits were detected. In 21 cases with MCD (12 males) with a median age of 51 (range: 18-87) years, the C4d marking was negative in every samples. Conclusion : The results indicate that the marking of the renal biopsy with C4d is a useful tool for the dif ferential diagnosis between NM and MCD.

Comparison of the international ovarian tumor analysis simple rules scoring system and risk of malignancy index-4 as predictors of ovarian malignancy

Background: Ovarian cancer is one of the top three most common cancers in women. Most are detected at an advanced stage, so early detection is essential. A scoring system can easily predict an ovarian malignancy. IOTA Simple Rules and RMI-4 are easy-to-implement scoring systems. This study aimed to evaluate the comparison between the accuracy of the IOTA simple rules scoring system and RMI-4 as a predictor of malignancy in ovarian tumor cases at Prof. Dr. IGNG Ngoerah general hospital. Methods: This study used a diagnostic trial design involving 120 ovarian tumor patients undergoing surgery at Prof. Dr. IGNG Ngoerah general hospital, with 100 patients meeting the inclusion criteria. The collected data were tabulated and analyzed using SPSS for Windows ver. 22. Results were considered significant if p?0.05. Results: From 100 patient samples who met the inclusion criteria, 60 subjects (60%) were ovarian tumors with benign histopathologic results, and 40 (40%) subjects were tumors with malignant histopathology. The majority of ovarian tumors with malignant histopathology were found in the age group >50 years (52.5%), the menopausal group (57.5%), and multiparity (70%). CA-125 levels above 35 U/ml are found in 90% of the population, with details of 92.5% found in populations with malignant histopathological tumors. The AUC values for RMI-4 and IOTA simple rules are 0.846 and 0.925, with the p value for each scoring system being <0.001. Conclusions: This study found that the IOTA simple rules scoring method has a better diagnostic value than RMI-4 scoring.

Expert opinion on the prescription practice of dual combination oral anti-diabetic drugs in type 2 diabetes mellitus management

Background: This study aimed to gather the clinicians� perspective regarding the use and prescription practice of dual combination oral anti-diabetic drugs (OADs) in type 2 diabetes mellitus (T2DM) management in Indian settings. Methods: A cross-sectional study was conducted by using a 29-item structured questionnaire covering factors considered, challenges, preferred indicators of glycemic control, continuous glucose monitoring (CGM) use, and strategies. Additionally, it explored clinicians' feedback and experiences with dual combination oral anti-diabetic drugs in T2DM management. Results: Seventy percent of clinicians observed improved adherence to dual combination therapy of OAD. The combination of dipeptidyl-peptidase 4 (DPP4) inhibitors and metformin was favored for early initiation and showed better tolerability within the first year according to 42% of clinicians. Approximately 63% of clinicians prefer vildagliptin + metformin for 40� year-old diabetics. The combination yields favorable outcomes: 21% in young, 14% in elderly, and 7% in long-standing diabetes cases. After 5 years, 37% of clinicians observed 40-50% of diabetics reaching an HbA1c goal of <7.0% with this combination. Clinicians choose glimepiride + metformin for treatment intensification based on its efficacy, cardiovascular (CV) safety, and fewer adverse events. These factors were collectively recognized by 66.54% of respondents. Conclusions: This study provided valuable insights into real-world clinical practices and preferences regarding dual combination therapy for diabetes management. Clinicians identified the fixed-dose combination of DPP4 inhibitors and metformin as the preferred choice and highlighted the effectiveness of glimepiride + metformin in overcoming treatment intensification challenges.

A SIMULATION APPROACH FOR NOVEL 1,3,4 THIADIAZOLE ACETAMIDE MOIETIES AS POTENT ANTIMYCOBACTERIAL AGENTS

Objective: To design novel series of 1,3,4 thiadiazoles and to evaluate their anti-mycobacterial potency via In silico modeling.Methods: In silico modeling comprising of Lipinski rule evaluation, ADMET prediction, Molecular docking and Simulation studies aimed to identify potent 1,3,4 thiadiazoles.Results: The various physiochemical parameters and molecular descriptors of the proposed 1,3,4 thiadiazoles were predicted. And they exhibited good binding score compared with standard drug INH. The simulation studies showed minimal fluctuation of the ligand receptor complexes.Conclusion: The MD simulation and binding affinity of designed 1,3,4 thiadiazoles proved their efficiency as InhA inhibitors. The potency of the selected derivatives can be confirmed by further in vitro and in vivo experiments.

Analytical study on maternal and fetal outcome of pre-eclampsia with severe features at tertiary care hospital

Background: Pre-eclampsia is a multi-system, pregnancy specific disorder that is characterized by the development of hypertension and proteinuria after 20 weeks. Pre-eclampsia is the majority of referrals to tertiary care centre. It is one of the major causes of maternal and perinatal morbidity and mortality.Methods: A retrospective analytical study done over a period of six months from January 1st 2023 to June 30th 2023. Pregnant women admitted with PE with severe features to Cheluvamba hospital, MMCRI, Mysore during the study were considered and analysed using the proforma. Data was entered into Microsoft excel data sheet and was analyzed. Categorical data was represented in the form of Frequencies and proportionsResults: Incidence of PE with severe features in our hospital was 3.4%. Majority (69%) were between 23-27 years of age and 52.7% were primigravida. Maternal complications were noted in 37.5% attributed to renal dysfunction, postpartum haemorrhage, DIC, placental abruption, HELLP, pulmonary oedema and postpartum eclampsia.Conclusions: Maternal and perinatal complications are more in patients with severe pre-eclampsia. The incidence of severe pre-eclampsia can be reduced by early referral, better antenatal care, early recognition and treatment of pre-eclampsia

Combining Therapy of Vildagliptin with Metformin Improves Glycemic Control than Using Metformin Alone in The Treatment of Type 2 Diabetes Mellitus

The purpose of the trial was to determine whether combination medication for type 2 diabetes mellitus offers better glycemic control than monotherapy. Subjects whose ages were more than 18 years and with glycated hemoglobin levels higher than 7.5% were enrolled. Among the 664 patients enrolled, 332 received monotherapy, while 332 were treated with combination therapy. The treatment groups received either vildagliptin + metformin combination therapy or metformin monotherapy. Vildagliptin, as an adjunct to metformin treatment, was to be evaluated for its safety and efficacy in reducing HbA1c levels from baseline. The study included individuals with a history of T2DM for 3 to 4 years who had been treated with either combination therapy or monotherapy for at least three months. Statistical analysis was done using SPSS software. As per the findings, it indicated that combination therapy led to a considerably greater reduction in glycated hemoglobin levels compared to monotherapy. Adverse events were also observed to vary significantly between the two treatment cohorts. Outcomes suggest that combination medication should be started earlier than monotherapy for superior glycemic control. Additionally, it was thought that the combo therapy had a positive safety profile.

Deciphering FFAR4 Mediated Functional Pathways and Potential Drug Targets in Diabetes Mellitus: An Integrated Protein Interaction Network Analysis and Kinetic Simulation

Type 2 Diabetes is a metabolic disorder that affects people worldwide. The G-protein coupled receptor (GPCR) known as free fatty acid receptor 4 (FFAR4) has been shown to be a potential therapeutic target for type 2 diabetes mellitus (T2DM)and complications linked to obesity. The present study focuses on the pharmaceutical role of FFAR4 and its potential agonists by predicting anti-diabetic responses, including insulin secretion, glucose uptake and calcium ion concentration levels. We identified differentially expressed genes and elucidated their role extensively through analysis of pathways, molecular mechanisms and linked biological processes. In the present study, a systems biology approach was implemented to establish an interaction network between FFAR4 and its driver’s such as CASR and NR1H4, that highlighted their significance as potential prognostic and therapeutic targets. A mathematical model incorporating biological events mediated by these proteins is studied and simulated using kinetics law reactions. Furthermore, the kinetic simulations were conducted to assess the impact of drug molecules, namely comp35, comp50, compN1 and compN2, on FFAR4 function. The findings reveal FFAR4’s potential as a therapeutic target for the treatment of type 2 diabetes mellitus.

Cornelia de Lange syndrome type 4 with a novel heterozygous missense variant in RAD 21 gene

Cornelia de Lange syndrome (CdLS) is a congenital multisystemic disorder characterized by genetic heterogeneity. It presents with features such as growth and cognitive retardation, upper limb deformities, cardiac, ophthalmologic, and genitourinary anomalies, alongside distinctive facial characteristics. The CdLS phenotype represents a spectrum that includes both classic and non-classic phenotypes resulting from pathogenic variants in genes associated with cohesin functioning, including NIBPL, SMC1A, SMC3, RAD21, BRD4, HDAC8, and ANKRD11. Mutations in these genes manifest diverse clinical features, with RAD21 variants accounting for a small percentage of cohesinopathies in humans. RAD21-related cohesinopathy typically exhibits growth retardation, minor skeletal anomalies, and facial features overlapping with CdLS. However, cognitive involvement tends to be milder. Despite this, due to the limited number of reported cases with RAD21 mutations, establishing genotype-phenotype correlations remain challenging. We present the case of an 18-month-old boy exhibiting developmental delay and distinct morphological features including micro-brachycephaly, depressed nasal bridge, upturned nose, long philtrum, low-set ears, mesomelic limb dwarfism, and a complete endocardial cushion defect. Exome sequencing revealed a novel RAD21 variant in this individual.

Positive association of serum IgG4 levels with modified marsh classification system in children with gluten enteropathy: a single centre experience

Background: Celiac disease or gluten enteropathy is an immune-mediated systemic disorder elicited by gluten and related prolamines in genetically susceptible individuals and is characterized by the presence of gluten enteropathy, celiac disease-specific antibodies, HLA-DQ2/DQ8 haplotypes. IgG4-related diseases is an increasingly recognized immune-mediated condition in autoimmune disorders such as primary sclerosing cholangitis, autoimmune hepatitis, and autoimmune thyroiditis, characterized by tissue fibrosclerosis and infiltration by IgG4-positive plasma cells and increased serum IgG4 concentrations.Methods: A total of 33 children with newly diagnosed celiac disease and 31 control subjects were included in this study. All suspected celiac disease children underwent duodenal biopsy and were diagnosed based on Marsh grading. Serum IgG4 level estimations were performed using an enzyme-linked immune sorbet assay method with a cut-off of 135 mg/dl for diagnosis.Results: A significant positive association between serum IgG4 levels and Marsh classification was found, the higher the levels of IgG4 in serum, the higher the grade on Marsh staging. Mean serum IgG4 levels in Marsh 3a was 126.32 mg/dl, in 3b was 171.35 mg/dl and in 3c was 209.24 mg/dl (p value=0.004)Conclusions: With increasing serum IgG4 levels, increased severity of damage was seen on biopsy specimens based on higher Marsh grade. To the best of found knowledge, this is the first study to establish the relation between IgG4 and mucosal damage in children with celiac disease.

Nefropatía por enfermedad relacionada a IGG4 / Nephropathy due to IGG4-related disease

IgG4-related disease (ER-IgG4) is a group of systemic fibro-inflammatory diseases, whose renal involvement is rare and difficult to diagnose. Diagnosis is usually made by serological and histological studies. Treatment is based on systemic corticosteroids. The renal prognosis is determined by the patient's comorbidities and the degree of fibrosis in the renal biopsy. We present the case of an elderly patient with exacerbated chronic kidney disease, whose study showed nephropathy associated with ER-IgG4.

La enfermedad relacionada a IgG4 (ER-IgG4) es un grupo de enfermedades fibro-inflamatorias sistémicas, cuya afectación renal es poco frecuente y de difícil diagnóstico. Habitualmente el diagnóstico se realiza mediante estudios serológicos e histológicos. El tratamiento se basa en corticoides sistémicos. El pronóstico renal está determinado por las comorbilidades del paciente y el grado de fibrosis en la biopsia renal. Se presenta el caso de un paciente adulto mayor con enfermedad renal crónica reagudizada, cuyo estudio demostró nefropatía asociada a ER-IgG4.

Comparison of non-invasive scores predictive of development of metabolic dysfunction associated liver disease in patients of type 2 diabetes mellitus and evaluation of additive effect of smoking in these patients

Background: Metabolic dysfunction associated liver disease (MASLD) has been found to be at alarming increase in Indian population. Prevalence of metabolic syndrome including Type 2 Diabetes Mellitus is also increasing which may be attributed to certain lifestyle changes. In the present study, we compared the likelihood of liver fibrosis by measurement of non-invasive scores among Type 2 diabetics and smokers, Type 2 diabetics but non-smokers and healthy controls. Our study will provide useful insights to evaluate the association between Type 2 diabetes, smoking and development of MASLD. Methods: The study was done at a tertiary care hospital. Participants were divided into 3 groups (each of 40 participants) which included those with type 2 diabetes mellitus and smokers, those with type 2 diabetes mellitus but non-smokers and healthy controls. Parameters included in the database were age, sex, body mass index, history of diabetes, history of hypertension, any medication, tobacco use and alcohol consumption. Venous blood samples were taken in the morning after a 12-h overnight fasting and investigations were done. Results were recorded. Results: FIB-4 score and AST/ALT ratio was significantly higher in diabetics and smoker patients, in comparison to diabetics but non-smokers and healthy controls. Conclusions: Smoking and underlying type 2 diabetes mellitus have a synergistic effect on the severity of fibrosis, as compared to nonsmokers with type 2 diabetes mellitus. Hence smoking cessation, in addition to glycemic control with regular medication, may be beneficial in reducing the severity of MASLD among patients with type 2 diabetes mellitus.

Risk of malignancy index 4 for differentiating benign from malignant ovarian tumor

Background: Approximately 22% of gynaecologic cancers are of ovarian origin, but 47% of all gynaecologic cancer deaths occur in women who have ovarian cancer. Ovarian cancer is usually diagnosed at an advanced stage because most of the symptoms are nonspecific, hence, the difficulty in diagnosis at early stages. In general, there is no effective screening test for ovarian cancer. Aim was to evaluate the ability of risk of malignancy index 4 (ROMI 4) to differentiate benign from malignant ovarian tumors.Methods: A prospective observational study was conducted in April 2019 to march 2020.Results: In the present study the ROMI 4 score at cut-off ? 450 had sensitivity, specificity, PPV and NPV of 74.3%, 65.3%, 42.6% and 88% respectively for malignant ovarian tumor.Conclusions: Preoperative ROMI 4 score ?450 will lead to rational basis for further referral to higher centre or gynaecology oncologist timely for appropriate surgical intervention/ management.

Synthesis, In-vivo estimation of Novel 3-(6-Substituted Benzthiazole-2-yl /Oxadiazole-2-yl)-2-Substituted 4-Quinazolineones

Even with all of the new and old therapies available, seizure management is infamously difficult. Scientists will continue to search for novel drugs with high selectivity and low central nervous system side effects in the hopes of finding the newest and most effective treatment. This work designates the synthesis of several 4- quinazolinones substituted with oxadiazoles and benzothiazoles through condensation of 2-substituted-4H-benzo(1,3)-oxazin-4-ones with substituted-oxadiazole and 6-substituted-benzothiazol-2-amine. The title compounds were confirmed through IR, 1H-NMR, 13C-NMR analyses. The compounds evaluated for anticonvulsant activity. Compounds A3, A4, A9, A5, A10 possess good potential. They reduce the extent of tonic phase up to 1.3 to 1.1 seconds and stupor up to 100 to 51 seconds with absence of straub phase when compared to the control group.

1,2,3-TRIAZOLE CARBOXAMIDE DERIVATIVES AS NOVEL PROSPECTIVE ANTICANCER AGENTS: SYNTHESIS, CHARACTERIZATION AND IN-SILICO STUDIES

The ongoing and persistent endeavour to discover effective new anticancer medications remains a steadfast objective. Presently, the focus of this research lies in exploring novel substituted derivatives of 1,2,3-triazole carboxamide. A set of novel derivatives of 1,2,3-triazole carboxamide(5a-5n) were successfully synthesized with yields ranging from satisfactory to excellent. These compounds underwent characterization using various analytical methods, such as 1H NMR, 13C NMR, and mass spectrometry. Their cytotoxic potential against four cancer cell lines—HeLa, PANC-1, HCT-116, and A-549—was evaluated in vitro. Notably, compounds 5j, 5i, 5m, and 5f displayed significant anticancer activity. Molecular docking experiments were conducted on the synthesized compounds, revealing strong binding interactions with the active sites of EGFR and CDK4-Cyclin D3. However, out of all the derivatives tested, namely 5i, 5j, 5g, 5f, and 5h, it was observed that these compounds displayed a favourable binding affinity towards both the EGFR and the CDK4-Cyclin D3 active site. The results of the study suggest that the synthesised compounds have potential as agents for cancer therapy. Furthermore, further alterations to the structure of triazole-carboxamide derivatives could lead to the development of effective anticancer drugs.

Identificación del alelo HLA B*57: 01 en una población militar, de Lima-Perú / Identification of the allele HLA B*57: 01 in a military population, from Lima-Peru

El alelo HLA B*57:01 es un marcador genético asociado con la hipersensibilidad al fármaco anti-retroviral abacavir (ABC) y su frecuencia en la población peruana todavía es desconocida. El objetivo fue identificar el alelo HLA B*57:01 en una población militar de Lima, Perú. Se reclutaron 43 personas viviendo con VIH (PVV) quienes aceptaron participar a través de un consentimiento informado. La detección del alelo HLA B*57:01 se realizó mediante RPC en tiempo real (RT-PCR). Asimismo, se determinó la carga viral (CV), el recuento de linfocitos CD4 y la genotipificación del VIH. Se identificaron dos casos positivos al alelo HLA B*57:01 (4,7%). Además, uno de ellos presentó múltiples mutaciones de resistencia a los anti-retrovirales (ARV), incluyendo ABC. Se demostró por primera vez en el Perú la presencia del alelo HLA B*57:01.

The HLA B*57:01 allele is a genetic marker associated with hypersensitivity to the antiretroviral Abacavir (ABC) and its frequency in the Peruvian population is still unknown. The objective was to identify the HLA B*57:01 allele in a military population from Lima, Peru. Forty three people living with HIV (PLWH) were recruited, who agreed to participate through informed consent. Detection of the HLA B*57:01 allele was performed by real-time PCR (RT-PCR). Likewise, viral load (VL), CD4 lymphocyte count and HIV genotyping were determined. Two cases positive for the HLA B*57:01 allele (4.7%) were identified. In addition, one of them had multiple resistance mutations to antiretrovirals (ARVs), including ABC. The presence of the HLA B*57:01 allele was demonstrated for the first time in Peru.

Area postrema syndrome: an atypical presentation of primary Sjogren's

Neuromyelitis optica spectrum disorder (NMOSD) is a rare autoimmune condition characterized by antibodies against serum aquaporin-4 (AQP4), primarily affecting the optic nerves and spinal cord. This case report sheds light on the diagnostic challenges of area postrema syndrome (APS) as the initial manifestation of Sjogren's syndrome, often misidentified due to its diverse symptomatology. APS, seen in 10% of NMOSD cases, manifests as persistent nausea, vomiting, and uncontrollable hiccups. Left untreated, APS can progress to optic neuritis and longitudinally extensive myelitis, emphasizing the need for early intervention with corticosteroid therapy and immunomodulators. NMOSD commonly coexists with other autoimmune diseases like Sjogren's syndrome and systemic lupus erythematosus. Recent evidence also highlights NMOSD's impact on peripheral organs, particularly skeletal muscles, with elevated creatine kinase levels during acute phases. Understanding the relationship between NMOSD and autoimmune diseases is vital for accurate diagnosis and management, especially in cases of seronegative NMOSD and recurrent attacks, emphasizing comprehensive clinical evaluations and a broader diagnostic approach.

Diagnostic Performance of FibroScan in a Liver Disease Center in Bogotá from 2019 to 2022 / Rendimiento diagnóstico del FibroScan en un centro de enfermedades hepáticas en Bogotá durante el 2019 al 2022

Abstract Introduction: The medical record and liver biochemical profile are essential in diagnosing liver diseases. Liver biopsy is the reference parameter for diagnosis, activity evaluation, fibrosis status, or therapeutic response, but it is invasive and carries risks. For fibrosis staging, easily accessible non-invasive tests without resorting to biopsy have been developed. The FIB-4 and APRI indexes are helpful but do not determine the degree of fibrosis in the early and intermediate stages. Fibrosis can be evaluated using elastography, a sensitive technique to differentiate patients without fibrosis from those with advanced fibrosis. Objective: To describe the diagnostic performance of FibroScan in detecting fibrosis compared to the APRI and FIB-4 indexes versus the biopsy in a care center for patients with liver diseases in Bogotá. Methods: A retrospective, cross-sectional cohort study compared the APRI, FIB-4, and Fibroscan with biopsy; diagnostic accuracy measures and an area under the curve (AUROC) analysis were described. Results: The biopsy was positive for fibrosis in 40%. The AUROC was 0.90 (confidence interval [CI]: 0.83-0.97) for FibroScan, 0.52 (CI: 0.35-0.68) for APRI, and 0.52 (CI: 0.37-0.68) for FIB-4. Conclusions: FibroScan helps diagnose and monitor chronic liver disease and should be combined with other tests and the clinical picture. FibroScan was better at detecting advanced stages when discriminating against patients with liver fibrosis than the APRI and FIB-4 indexes.

Resumen Introducción: En el proceso diagnóstico de las enfermedades hepáticas, la historia clínica y el perfil bioquímico hepático son fundamentales. La biopsia hepática es el parámetro de referencia para el diagnóstico, evaluación de la actividad, estado de fibrosis o respuesta terapéutica, pero es invasiva y con riesgos. Para la estadificación de la fibrosis, se han desarrollado pruebas no invasivas de fácil acceso y sin recurrir a la biopsia. Los índices FIB-4 y APRI son útiles, pero no determinan el grado de fibrosis en estadios precoces e intermedios. La fibrosis puede evaluarse mediante elastografía, técnica sensible para diferenciar pacientes sin fibrosis de aquellos con fibrosis avanzada. Objetivo: Describir el desempeño diagnóstico para la detección de fibrosis del FibroScan comparado con los índices APRI y FIB-4 frente a la biopsia de pacientes evaluados en un centro de atención de pacientes con enfermedades hepáticas de Bogotá. Métodos: Estudio de cohorte retrospectivo, transversal, que comparó los índices APRI, FIB-4 y Fibroscan con la biopsia; se describieron las medidas de precisión diagnóstica y un análisis de área bajo la curva (AUROC). Resultados: La biopsia fue positiva para fibrosis en el 40%, FibroScan mostró un AUROC de 0,90 (intervalo de confianza [IC]: 0,83-0,97), índices APRI de 0,52 (IC: 0,35-0,68) y FIB-4 de 0,52 (IC: 0,37-0,68). Conclusiones: FibroScan es útil para el diagnóstico y seguimiento de la enfermedad hepática crónica, y debe utilizarse en combinación con otras pruebas y la clínica. FibroScan mostró un excelente rendimiento en la discriminación de pacientes con fibrosis hepática comparado con los índices APRI y FIB-4, y es mejor para detectar estadios avanzados.