Hypopituitarism in elderly � A case series

Hypopituitarism is found to be one of the under investigated disease in elderly as it produces non specific symptoms which can be easily attributed to ageing and related co morbidities. Unless the hypopituitarism is identified and proper therapy is instituted, the clinical consequences of the untreated patients will be fatal. Here we report three cases of hypopituitarism in elderly patients whose clinical presentation and etiology was completely different. The first patient was fifty year old lady who is a known asthmatic for the past thirty years on steroids and had iatrogenic Cushing抯. On tapering the steroids she developed hypotension and giddiness. On eliciting the history she was suspected to have Sheehan抯 syndrome and was confirmed with investigations. She was advised to continue the steroids with calcium supplements. The second patient is an 80 years old female who came with complaints of increased tiredness daily more in the morning while getting up and improves slowly in the afternoon time and getting tired again in the night. When she was examined she had hypotension of 90/50 mm of hg. She was evaluated for Partial hypopituitarism and investigation confirmed hypopituitarism and she was started on Hydrocortisone tablets and she improved. The third patient was a 65 year old lady who was diagnosed to have diabetes mellitus and hypothyroidism and was on oral hypoglycemic drugs and eltroxine supplementation respectively. She had multiple hypoglycemic symptoms unresolved in spite of tapering the oral hypoglycemic drugs and on evaluation found to have partial hypopituitarism and started on T. Hydrocortisone and she improved well. We report these three cases as hypopitiutarism has multifaceted clinical presentation and needs high level of suspicion to diagnose it in elderly

Practice patterns and opinions in the treatment of allergic eye disease: A survey among Indian ophthalmologists

Purpose: Management of allergic eye disease is seldom straightforward and often challenging. We conducted an online survey to elicit opinions on the preferred practice pattern in the treatment of allergic eye disease. Methods: An online survey questionnaire was sent to all practicing ophthalmologists using social media platforms. The respondents were asked about their clinical experience and preferred treatment in various scenarios such as mild?moderate vernal keratoconjunctivitis (VKC), chronic VKC, refractory VKC, steroid responders, giant papillae, and shield ulcer. Respondents were asked about the newer molecule (alcaftadine) and reservations regarding systemic immuno?suppressants and ordering allergy tests in their practice. Results: Ninety ? one participants responded to the survey. About 57.1% of ophthalmologists reported coming across more than 10 cases per week in their practice. The most common age group was 5–10 years (61.1%), but adult onset VKC was also reported at 41.6% (1–2 per month), 37.1% (3–5 per month), and 13.5% (more than 10 per month). The disease is perennially present (36.7%), and a mixed form has been reported by 47.8% of ophthalmologists. Dual?acting agents were preferred by 40% in mild?moderate clinical variants. Topical steroids in slow tapering dosage were preferred by 86.7% in their prescription. Tacrolimus 0.03% was preferred by 65.9% and given for at least 3 months of continuous usage by 47.6% of ophthalmologists. High?dose topical steroids were preferred for giant papillae (67.8%) and Shields ulcers (68.3%) in our survey. Supratarsal steroid injection was preferred by 50% in treating refractory VKC in our survey. Conclusion: Allergic eye disease is a common yet annoying disease. The signs and symptoms can vary from subtle, innocuous forms to devastating variants affecting vision and day?to?day work. This survey aims to elicit responses from clinicians spreading across different geographical areas and compares responses based on experience in practice

Clinical profile and management of granulomatosis with polyangiitis–associated scleritis from a tertiary care hospital in South India

Purpose: To describe the clinical features and management of patients with scleritis associated with granulomatosis with polyangiitis (GPA) at a tertiary eye care center in South India. Methods: The clinical profile and management of patients presenting to a tertiary eye care center in South India with scleritis secondary to GPA from 2003 to 2021 were analyzed retrospectively. Scleritis was classified into anterior diffuse, nodular, and necrotizing scleritis with inflammation according to Watson and Hayreh’s classification. Demographic characteristics, clinical features, anti?neutrophil cytoplasmic antibody (ANCA) positivity, treatment response, ocular complications, and status at the last follow?up were analyzed. Statistical analysis of data was performed using Microsoft Excel 2019. Results: Nineteen eyes of 17 patients (15 cytoplasmic staining ANCA [c?ANCA], two p?ANCA positive) were included. Fifteen eyes had necrotizing scleritis, two had diffuse anterior scleritis, and two had nodular scleritis. Remission was induced using a combination of steroids and cyclophosphamide or rituximab. Maintenance therapy was instituted using tapering steroids and immunosuppressants like cyclophosphamide, mycophenolate mofetil, methotrexate, or rituximab. Three eyes required a scleral patch graft. Fourteen patients had good anatomical and visual outcomes, and three were lost to follow?up. Conclusion: GPA is a rare disease, while it is the most common ANCA?associated vasculitis with scleritis. As scleritis may be the presenting sign of the disease, ophthalmologists must be aware of the various features suggestive of GPA. GPA?associated scleritis can have a good prognosis when diagnosed promptly and managed aggressively in the acute stage, and remission is maintained with adequate systemic immunosuppression.

A Case of Withdrawal Syndrome after Opioid Discontinuation Following Pain Relief of Bone Metastases

Introduction: In patients receiving opioids, relief of cancer pain by palliative radiation therapy or other means can lead to opioid discontinuation and subsequent withdrawal symptoms, such as agitation, insomnia, and diarrhea, due to opioid-related physical dependence. Appropriate steps should be taken to prevent these symptoms. Case: A 72-year-old man underwent surgery for esophageal cancer. He developed low back pain and right lower limb pain, and was diagnosed with sacral and right iliac bone metastases. His pain was resistant to oxycodone (OXC), so he was simultaneously treated with methadone (MDN) and palliative radiotherapy. His pain gradually decreased, and MDN was tapered and switched to OXC, which was in turn discontinued at 20 mg/day at the patient's strong request. After OXC discontinuation, akathisia, anxiety, and diarrhea appeared as withdrawal symptoms. These were treated with immediate-release OXC, transdermal fentanyl, and suvorexant. Discussion: When discontinuing opioids, dose reduction below 10% per week is recommended, de-escalation to the lowest possible dose should be followed by cessation. In case of withdrawal symptoms, immediate-release opioids may be used, and opioid tapering should be attempted in parallel with symptom control.

Diagnosis and treatment of 26 cases of adenovirus infection after allogeneic hematopoietic stem cell transplantation / 中华血液学杂志

Objective: To analyze the clinical characteristics and prognosis of adenovirus infection after allogeneic hematopoietic stem cell transplantation. Methods: A total of 26 patients with adenovirus infection admitted to the posttransplant ward of the First Affiliated Hospital of Soochow University from 2018 to 2022 were enrolled. Their data on baseline and clinical characteristics, treatment, and follow-up were analyzed. Results: The median patient age was 30 (22, 44) years. Twenty-two patients received related haploid stem cell transplantation, three received unrelated stem cell transplantation, and one received umbilical cord stem cell transplantation. Antithymocyte globulin was included in the conditioning regimen in 25 patients. The median time of adenovirus infection was +95 (+44, +152) days. The median peripheral blood lymphocyte count was 0.30 (0.11, 0.69) × 10(9)/L. Twelve patients had acute graft-versus-host disease. Twenty-four patients received antirejection therapies at diagnosis. Sixteen cases had combined infection with other pathogens with adenovirus infection. Eight cases were diagnosed as asymptomatic infection, and 18 were diagnosed as adenovirus disease, including pneumonia (38.89% ) , gastrointestinal disease (38.89% ) , encephalitis (33.33% ) , hepatitis (5.56% ) , and urinary tract inflammation (5.56% ) . The age of >30 years was a risk factor for adenovirus disease (P=0.03) . Eighteen patients received tapering of immunosuppression, and all 26 patients received at least one antiviral drug. Other treatments included high-dose gamma globulin and donor lymphocyte infusion. Adenovirus infection improved in 10 cases and progressed in 16 cases. The median follow-up time was 30 (7, 237) days. Twenty-two patients died. The all-cause mortality rate was (88.5±7.1) % , and the attributable mortality rate was 45.5% . There was no significant difference in the 100 d survival rate between asymptomatic infected patients and patients diagnosed with adenovirus disease (37.5% vs 22.2% , HR=1.83, 95% CI 0.66-5.04, P=0.24) . Conclusion: The age of >30 years was a risk factor for adenovirus disease. Mortality was high in patients with adenovirus infection after allogeneic hematopoietic stem cell transplantation.

Prenatal diagnosis and pregnancy outcome of anomalous origin of one pulmonary artery branch from the aorta: analysis of 14 cases / 中华围产医学杂志

Objective:To summarize the prenatal diagnosis features, classification and pregnancy outcome of anomalous origin of one pulmonary artery branch from the aorta (AOPA).Methods:This study involved 14 cases who were prenatally diagnosed with AOPA in Guangzhou Women and Children's Medical Center between June 2016 and August 2022. Prenatal and postnatal echocardiographic features, postpartum diagnosis, surgical treatment and pregnancy outcome in these cases were summarized and analyzed by descriptive analysis.Results:Out of the 14 fetuses, there were seven fetuses with proximal-type AOPA (including three isolated AOPA, three Berry syndrome and one with interruption of the aortic arch, aorticopulmonary septal defect and ventricular septal defect) and another seven with isolated distal-type of AOPA. Among the seven cases of proximal-type AOPA, two were terminated and five were born alive. The postpartum diagnosis was consistent with the prenatal diagnosis in the five babies who later underwent surgical treatment with good outcomes. Among the seven cases of distal-type AOPA, one was terminated; two were initially diagnosed as AOPA in the neonatal period but then as unilateral absence of pulmonary artery (UAPA) due to tapering or closure of the ductus arteriosus during follow-up; the other four were confirmed with UAPA after delivery. All of the six neonates underwent surgical treatment with good outcomes.Conclusions:Prenatal diagnosis and classification of AOPA should be as accurate as possible. It is recommended that the distal-type of AOPA could be diagnosed as UAPA after delivery and treated according to UAPA. Both kinds of patients should be treated with surgery timely after delivery to ensure a good prognosis.

De Novo ANCA-Negative Pauci-Immune Crescentic Glomerulonephritis After COVID-19 mRNA Vaccination: A Case Report

To prevent the spread of the coronavirus disease 2019 (COVID-19) pandemic, vaccines have been authorized for emergency use and implemented worldwide. We present a case of de novo glomerulonephritis (GN) after use of the COVID-19 mRNA vaccine BNT162b2.A 48-year-old man with no relevant medical history was referred for sudden and persistent worsening of renal insufficiency 1.5 months after the second vaccine dose. He had arthralgia and skin rash a week after vaccination. Abdominal pain and diarrhea started 2 weeks later, and he was admitted to the hospital for enteritis treatment. Colonoscopy showed multiple ulcerations and petechiae suggestive of vasculitis in the terminal ileum. After prednisolone therapy, his gastrointestinal symptoms improved, but his renal function continued to deteriorate. Based on kidney biopsy findings and nephrotic-range proteinuria (5,306 mg/24 hours), he was diagnosed with anti-neutrophil cytoplasmic autoantibody (ANCA)-negative pauci-immune crescentic GN (CrGN). He received high-dose steroid pulse therapy and oral cyclophosphamide, and then, gradually underwent steroid tapering, with improvement in proteinuria and renal function over several weeks. Several cases of GN suspected to be related to COVID-19 vaccines have been reported. To our knowledge, this is the first case report of ANCA-negative pauci-immune crescentic CrGN with extrarenal involvement after COVID-19 mRNA vaccination. Our finding expands the spectrum of COVID-19 vaccine-associated GN.

A control study of steroid withdrawal protection strategy after kidney transplantation in children / 中华儿科杂志

Objective: To study the influence of steroid withdrawal protection strategy on height growth in pediatric patients after kidney transplantation. Methods: The prospective cohort study enrolled 40 stage 5 chronic kidney disease children receiving kidney transplantation from July 2017 to September 2022 at Guangzhou Women and Children's Medical Center. Based on the primary preoperative disease, patients with immune abnormality-associated glomerular diseases or unknown causes were assigned to the steroid maintenance group, in which patients received steroid tapering within 3 months after surgery to a maintenance dose of 2.5 to 5.0 mg/d. While patients with hereditary kidney disease or congenital urinary malformations were assigned to the steroid withdrawal group, in which patients had steroids tapered off within 3 months. The characteristics of height catch-up growth and clinical data were compared between the 2 groups at baseline, 6, 12, 18 and 24 months after kidney transplantation. T-test, repeated measurement of variance analysis, Mann-Whitney U test, and Fisher exact test were used for the comparison between the 2 groups. Results: Among the 40 children, 17 were males, 23 were females, 25 were in the steroid withdraw group ((7.8±2.8) years old when receiving kidney transplantation) and 15 cases were in the steroid maintenance group ((7.6±3.5) years old when receiving kidney transplantation). The study population was followed up for (26±12) months. The total dose per unit body weight of steroids in the steroid withdrawal group was lower than that in the steroid maintenance group ((0.13±0.06) vs. (0.36±0.19) mg/(kg·d), t=5.83, P<0.001). The height catch-up rate (ΔHtSDS) in the first year after kidney transplantation in the steroid withdraw and steroid maintenance groups was 1.0 (0.7, 1.4) and 0.4 (0.1, 1.0), respectively; in the second year, the ΔHtSDS in the steroid withdraw group was significantly higher than that in the steroid maintenance group (1.1 (0.2, 1.7) vs. 0.3 (0, 0.8), U=28.00, P=0.039). The HtSDS in the steroid withdrawal group at the five follow-up time points was -2.5±0.8, -2.0±0.8, -1.5±0.8, -1.3±0.9 and -0.5±0.3, respectively, while in the steroid maintenance was -2.4±1.3, -2.2±1.1, -2.0±1.0, -1.8±1.0 and -1.6±1.0, respectively. There were statistically significant differences in HtSDS at different follow-up time points in both 2 groups (F=19.81, P<0.01), but no statistical differences in overall impact between the 2 groups (F=1.13, P=0.204). The steroid treatment was interaction with the increase of follow-up time (F=3.62, P=0.009). At the 24th month after transplantation, the HtSDS in the steroid withdrawal group was significantly higher than that in the steroid maintenance group (P=0.047). Six patients in the steroid withdrawal group experienced antibody-mediated immune rejection (AMR), while 3 did in the steroid maintenance group. Moreover, there was no significant difference in AMR between the two groups (χ2=0.06, P=0.814). Conclusion: The steroid withdrawal protection strategy favors the height catch-up growth in pediatric patients after kidney transplantation and does not increase the risk of postoperative antibody-mediated immune rejection.

The efficacy and safety of glucocorticoid stent implantation compared with oral glucocorticoid during perioperative period in chronic rhinosinusitis with nasal polyps / 临床耳鼻咽喉头颈外科杂志

Objective:To compare the perioperative efficacy and safety of postoperative oral glucocorticoid and glucocorticoid stent implantation in patients with chronic rhinosinusitis with nasal polyps（CRSwNP） undergoing functional endoscopic sinus surgery（FESS）. Methods:Sixty patients with bilateral CRSwNP with similar degree of lesions were selected and divided into three groups: conventional surgical treatment group（20 cases）, glucocorticoid stent group（20 cases）, and oral glucocorticoid group（20 cases）. All three groups underwent routine FESS, patients in the sinus glucocorticoid stent group receiving sinus glucocorticoid stent placed in the ethmoid sinuses（one on each side） during surgery, and patients in the oral glucocorticoid group received postoperative oral methylprednisolone at a dose of 0.4 mg/kg per day for 7 days, followed by a tapering of 8 mg per week to 8 mg followed by maintenance therapy for 1 week, for a total of 3-4 weeks. Visual analog scale（VAS） scores were used to evaluate nasal congestion, rhinorrhea, olfaction, and facial pressure symptoms before surgery, as well as at 2, 4, 8, and 12 weeks after surgery. Nasal endoscopic Lund-Kennedy scores were recorded, and adverse reactions such as stent detachment, stent-related allergic reactions, sleep disorders, edema, gastrointestinal symptoms, rash/acne, behavioral/cognitive changes, weight gain, limb pain, and infection risk were documented. Results:The nasal congestion symptom scores at 2, 4, 8, and 12 weeks after surgery were significantly lower than those before operationin all three groups, and the differences were statistically significant（P<0.05）. The sinus glucocorticoid stent group exhibited significantly lower nasal congestion symptom scores at 4 and 8 weeks after surgery compared to the conventional surgical treatment group. The rhinorrhea symptom scores at 2, 8, and 12 weeks after surgery were significantly lower than preoperative scores in all three groups. Additionally, the sinus glucocorticoid stent group had significantly lower rhinorrhea scores than the conventional surgical treatment group at 2 weeks postoperatively. Concerning olfaction, the sinus glucocorticoid stent group showed a significant reduction in scores at 12 weeks postoperatively, while the oral glucocorticoid group exhibited significant improvement starting from 8 weeks after surgery. There were no statistically significant differences in nasal congestion, rhinorrhea, facial pressure, and olfaction scores between the sinus glucocorticoid stent and oral glucocorticoid groups at 2, 4, 8, and 12 weeks postoperatively. Nasal endoscopy scores revealed lower polyp scores and edema at 2, 4, 8, and 12 weeks postoperatively for all three groups compared to preoperative scores. The conventional surgical treatment group exhibited a significant reduction in nasal secretion scores starting from 8 weeks after surgery, while both the sinus glucocorticoid stent and oral glucocorticoid groups showed significant reductions starting from 2 weeks postoperatively, with scores significantly lower than those of the conventional surgical treatment group at 2 weeks. Scab/scar scores in the conventional surgical treatment group significantly decreased from 8 weeks after surgery, while both the sinus glucocorticoid stent and oral glucocorticoid groups exhibited significant reductions starting from 4 weeks. No statistically significant differences were observed in endoscopy scores（including polyps, edema, nasal secretion, scars, and scabs） between the sinus glucocorticoid stent and oral glucocorticoid groups at 2, 4, 8, and 12 weeks postoperatively. Regarding adverse reactions, no postoperative complications related to sinus glucocorticoid stent were observed in the sinus glucocorticoid stent group. In the oral glucocorticoid group,1 patient experienced irritability, and 1 patient experienced weight gain. Conclusion:The glucocorticoid stent implantation has comparable effects to oral glucocorticoid in improving postoperative nasal symptoms, reducing nasal mucosal edema, scar formation, and nasal secretion in patients with CRSwNP undergoing FESS, with a better safety profile.

Börjeson -Forssman -Lehmann syndrome: A case report / 中南大学学报(医学版)

Börjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked intellectual disability. The main features of the patients include intellectual disability/global developmental delay, characteristic face, anomalies of fingers and toes, hypogonadism, linear skin hyperpigmentation, and tooth abnormalities in female patients, and obesity in male patients. A case of BFLS caused by a novel mutation of PHF6 gene who was treated in the Department of Pediatrics, Xiangya Hospital, Central South University was reported. The 11 months old girl presented the following symptons: Global developmental delay, characteristic face, sparse hair, ocular hypertelorism, flat nasal bridge, hairy anterior to the tragus, thin upper lip, dental anomalies, ankyloglossia, simian line, tapering fingers, camptodactylia, and linear skin hyperpigmentation. The gene results of the second-generation sequencing technology showed that there was a novel heterozygous mutation site c.346C>T (p.Arg116*) of the PHF6 (NM032458.3), variation rating as pathogenic variation. During the follow-up, the patient developed astigmatism, strabismus, awake bruxism, and stereotyped behavior, and the linear skin hyperpigmentation became gradually more evident. The disease is lack of effective therapy so far.

Effect of Intravitreal Dexamethasone Implant Injection in a Patient with Recurrent Nodular Anterior Scleritis

Purpose@#To report the use of intravitreal dexamethasone implant injection in a patient with recurrent nodular anterior scleritis.Case summary: A 16-year-old patient presented with persistent eye pain and conjunctival injection in the left eye, which were diagnosed as nodular anterior scleritis. The clinical features improved with topical and systemic steroid treatment, but the patient developed side effects related to steroid use, including elevated intraocular pressure and skin rash. The steroid dose was reduced which led to frequent recurrence. Immunosuppressive agents were added to the treatment regimen, but there was no improvement; the patient developed intermediate uveitis and vitreous hemorrhage. Scleritis and intermediate uveitis continued despite vitrectomy; therefore, intravitreal dexamethasone implant injection was performed. There was no scleritis recurrence within 1 year after injection, which allowed tapering of steroids and immunosuppressive drugs. @*Conclusions@#Intravitreal dexamethasone implant injection may be effective for recurrent nodular anterior scleritis in patients who exhibit complications, such as intermediate uveitis.

First female Korean child with Coffin-Lowry syndrome: a novel variant in RPS6KA3 diagnosed by exome sequencing and a literature review

Coffin-Lowry syndrome (CLS, OMIM # 303600) is a rare X-linked disorder caused by mutations in RPS6KA3. CLS is characterized by facial dysmorphism, digit abnormalities, developmental delays, growth retardation, and progressive skeletal changes in male patients. Females with CLS are variably affected, complicating diagnosis. Here, we describe the clinical and molecular findings in a female Korean child with CLS and review the associated literature. A 5-year-old girl presented with short stature and developmental delays. She had a coarse facial appearance characterized by a prominent forehead, hypertelorism, thick lips, and hypodontia. She also had puffy tapering fingers and pectus excavatum. We performed exome sequencing and identified a novel, likely pathogenic, heterozygous variant, c.326_338delinsCTCGAGAC (p.Val109Alafs*10), in RPS6KA3 (NM_004586.2). This is the first Korean female genetically diagnosed with CLS. In contrast to the delayed bone age reported in previous studies, our patient showed advanced bone age and central precocious puberty. CLS should be considered as a differential diagnosis of short stature, tapering fingers, and developmental delay. We suggest that molecular techniques can be a useful tool for diagnosis of rare disorders such as CLS because such conditions are not simple, and the associated spectrum of phenotypes can vary.

Spontaneous consecutive exotropia after conservative management of accommodative esotropia

@#Spontaneous consecutive exotropia (SCXT) in conservatively managed accommodative esotropia is not widely discussed. The author presents a case series of 4 patients with SCXT describing patient characteristics and possible risk factors. Management modifications based on this series are proposed. Four cases of patients who initially presented with accommodative esotropia and later developed SCXT are presented. The age range at presentation was between 4 months to 3 years, with total follow-up ranging between 8–15 years. All four cases presented with esotropia on or before the age of 3 years, with initial hyperopia ranging between +1.50 to +4.25. The SCXT occurred between ages 2–7 years. Possible risk factors identified include amblyopia, dissociated vertical deviation, rapid control of esodeviation, inferior oblique overaction, and poor follow-up during the course of their strabismus. The author recommends earlier tapering of hyperopia correction following initial control with full cycloplegic refraction. Identified risk factors should alert the specialists to be wary of SCXT.

Punctate inner choroidopathy in a young Filipino female: A case report

@#A 30-year-old, monocular myopic female consulted for new onset scotoma on her left eye. Best corrected visual acuity was 20/20 for the left eye. Fundus exam revealed a hypopigmented lesion in the inferior juxtafoveal area with no overlying vitreous reaction/opacity. Spectral domain optical coherence tomography (SD-OCT) showed focal disruption and elevation of the inner choroid and retinal pigment epithelium (RPE), indicating punctate inner choroidopathy (PIC). OCT angiography (OCT-A) revealed the presence of a choroidal neovascular membrane (CNV) on RPE-RPE fit segmentation. The CNV and lesion resolved upon treatment with one intravitreal bevacizumab injection and oral prednisone 60 mg (1.2 mg/kg body weight) per day tapering over 2 months. This is the first reported case of PIC in a Filipino that was diagnosed and treated with the guidance of high-resolution SD-OCT and OCT-A. These diagnostic tests proved useful in identifying the lesions based on cross-sectional views of the retina, RPE and choroid.

Sleep responses of young swimmers to training load and recovery during tapering / Respuestas del sueño a las cargas de entrenamiento y recuperación en jóvenes nadadores durante el tapering / Respostas do sono às cargas de treinamento e recuperação em jovens nadadores durante o polimento

ABSTRACT Introduction: Tapering is a decisive phase in planning a young swimmer's preparation for competition. During this period, not only training loads, but also recovery, which includes sleep quality, must be constantly monitored. Objective: This study aims to investigate sleep behavior as a variable directly influenced by training load during the tapering phase of training for young swimmers. Methods: A polysomnography test was performed at the beginning of the tapering phase, as a baseline for sleep variables. In each daily training session, the overload and recovery variables were measured. The internal training load was evaluated in the PSE session and the external load by quantifying the training. The recovery variables were divided into the recovery variable, assessed using the TQR questionnaire, and sleep variables, which included sleepiness, scored using the Karolinska scale, and sleep behavior, using an actigraph and a sleep diary. Conclusion: It is concluded that there is no significant influence between training loads and sleep variables. However, a strong association was observed between TST and EL (External load), in the irregular sleep group. Level of evidence III, Study of behavior.

RESUMEN Introducción: El tapering es una fase decisiva en la planificación de la preparación de un joven nadador para la competición. Durante este período, deben monitorearse constantemente no sólo las cargas de entrenamiento, sino también la recuperación, que incluye la calidad del sueño. Objetivo: Este estudio tiene como objetivo investigar el comportamiento del sueño como variable directamente influenciada por la carga de entrenamiento durante la fase de tapering del entrenamiento de jóvenes nadadores. Métodos: Se realizó una polisomnografía al inicio de la fase de tapering como base de las variables del sueño. En cada sesión diaria de entrenamiento se midieron las variables de sobrecarga y recuperación. La carga interna de entrenamiento fue evaluada por la sesión de PSE y la carga externa mediante cuantificación del entrenamiento. Las variables de recuperación se dividieron variables de recuperación, con el cuestionario QTR y variables de sueño, que incluían somnolencia mediante la escala de Karolinska y comportamiento del sueño con un actígrafo y diario de sueño. Conclusiones: Se concluyó que no existe una influencia significativa entre las cargas de entrenamiento y las variables del sueño. Sin embargo, se observó una fuerte asociación entre TTS y el CE, en el grupo de sueño irregular. Nivel de evidencia III, Estudio de comportamiento.

RESUMO Introdução: A etapa de polimento é uma fase decisiva no planejamento da preparação de um jovem nadador para a competição. Durante esse período, não somente as cargas de treinamento, mas também a recuperação, que inclui a qualidade do sono, devem ser constantemente monitoradas. Objetivos: Este estudo objetiva investigar o comportamento do sono como variável diretamente influenciada pela carga de treinamento durante a fase de polimento do treinamento de jovens nadadores. Métodos: O exame de polissonografia foi realizado no início da fase de polimento, como base para as variáveis do sono. Em cada sessão diária de treinamento foram medidas as variáveis de sobrecarga e de recuperação. A carga interna de treinamento foi avaliada pela sessão de PSE e a carga externa, pela quantificação do treinamento. As variáveis de recuperação foram divididas em variável de recuperação, com o questionário QTR e variáveis de sono, que incluíram sonolência pela escala de Karolinska e comportamento do sono com actígrafo e diário de sono. Conclusões: Conclui-se que não há influência significativa entre as cargas de treinamento e as variáveis do sono. Entretanto, foi observada forte associação entre TTS e CE no grupo sono irregular. Nível de evidência III; Estudo de comportamento.

Analysis of a child with Marfan syndrome due to a novel variant of FBN1 gene / 中华医学遗传学杂志

OBJECTIVE@#To carry out genetic testing for a child with Marfan syndrome (MFS) and explore its genotype-phenotype correlation.@*METHODS@#Peripheral blood samples of the child and his parents were collected for the extraction of genomic DNA and subjected to whole exome sequencing (WES). Candidate variants were verified by Sanger sequencing. Functional impact of the variant was predicted by using bioinformatic software.@*RESULTS@#The child, a 13-year-old male, has featured Marfanoid habitus, with arm span exceeding his height, tapering fingers and toes, pectus excavatum and scoliosis, but absence of typical cardiovascular system diseases such as aortic dilation, thoracic-abdominal aortic aneurysm, mitral valve prolapse, and lens dislocation. The child has harbored a novel splice site variant c.7383_7413del (p. N2461Kfs*211) of the FBN1 gene, which was not found in his parents and younger brother. The variant was unreported previously.@*CONCLUSION@#The novel variant of p. N2461Kfs*211 of the FBN1 gene probably underlay the MFS in this child. Above finding has enriched the genotypic and phenotypic spectrum of MFS.

Bilateral choroidal effusion following vaccination against SARS-CoV-2 virus

An 80-year-old systemically stable female presented with sudden blurring of vision post the first dose of Covishield™, a non-replicating viral vector vaccine. On examination, she was found to have bilateral serous choroidal effusions. A thorough systemic and ocular workup was performed to rule out other causes of choroidal effusion. The effusions resolved with tapering doses of oral and systemic steroids. To the best of our knowledge, at the time of submission, this is the first case of choroidal effusion being reported after the coronavirus disease 2019 (COVID-19) vaccine.

Intraoperative optical coherence tomography-guided donor corneal tissue assessment and preparation

Purpose: To evaluate the role of intraoperative optical coherence tomography (i?OCT) in donor grading, selection, and preparation during different types of keratoplasty. Methods: Seventy?one consecutive donor corneas collected over 6 months, after clinical grading, were observed by an experienced corneal surgeon under an i?OCT equipped microscope. The donor preparation (manual/automated) for different types of keratoplasty procedures was also undertaken under i?OCT. Results: The mean central corneal thickness of optical and nonoptical grade tissues was 533 ± 19 and 662 ± 52 ?m, respectively. The i?OCT?based grading matched with clinical grading in 98.5% cases. Irregular thickness, anterior stromal hyperreflectivity, and previous scars were appreciated in 1.4, 1.4, and 7.04% donors, respectively. During Descemet stripping automated endothelial keratoplasty, i?OCT facilitated selection of appropriate microkeratome head for automated donor preparation in all cases, besides allowing manual dissection of partially dissected lenticule, identification of site of inadvertent perforation, and eccentric trephination in one case each. During Descemet membrane endothelial keratoplasty, i?OCT?based assessment of preexisting scar (five cases) guided careful tissue selection (2/5) and preparation. During predescemetic endothelial keratoplasty, precise needle advancement allowed successful type?1 bubble formation in all cases. All manually punched donors demonstrated an extra endothelial ledge, while those with automated preparation showed tapering donor margins. Conclusion: i?OCT might serve as a useful imaging tool for objective assessment of donor characteristics. The modality may complement clinical evaluation for donor grading, selection, and preparation.

Retinal venous occlusion in a child following Corbevax COVID-19 vaccination

A 13-year-old boy developed painless diminution of vision in left eye 15 days after taking first dose of coronavirus disease 2019 (COVID-19) vaccine (Corbevax). Fundus and fluorescein angiography revealed central retinal vein occlusion in the left eye. Blood investigations were noncontributory. He was administered three doses of pulse corticosteroids followed by a tapering dose of oral corticosteroids. Retinal vascular occlusion can occur following COVID-19 vaccination in children, and early and aggressive systemic anti-inflammatory therapy can be helpful.

Pneumonite de hipersensibilidade na infância / Hypersensitivity pneumonitis in childhood

Neste relato descrevemos as características clínicas, epidemiológicas e radiológicas da pneumonite de hipersensibilidade, uma causa rara de insuficiência respiratória em pediatria. Paciente masculino, com 8 anos de idade, proveniente da zona rural, admitido em serviço terciário por quadro de febre, vômitos, tosse seca, dispneia progressiva, anorexia e perda de peso há 15 dias, associado a taquipneia, esforço respiratório, hipóxia e estertores finos em base direita. Tomografia computadoriza de tórax demonstrou opacidades com atenuações em vidro fosco, com comprometimento difuso e distribuição predominantemente centrolobular e acinar, característicos de pneumonite por hipersensibilidade. Na revisão das condições e hábitos de vida, foi relatado pela responsável do paciente a presença de um aviário e convívio com aves de várias espécies na residência, reforçando a hipótese diagnóstica, após descartadas outras causas de insuficiência respiratória. Iniciado corticoterapia com metilprednisolona 1 mg/ kg/dia por 7 dias, seguido de redução progressiva nas semanas posteriores. Paciente evoluiu com melhora do quadro e alta hospitalar, após orientações sobre controle ambiental e importância do afastamento dos antígenos desencadeantes. A pneumonite por hipersensibilidade é uma síndrome incomum na população pediátrica, que pode levar à insuficiência respiratória e fibrose pulmonar, devendo ser considerada nos pacientes com epidemiologia positiva. Pela sua raridade e semelhança com outras infecções respiratórias, ressalta-se ainda a importância da coleta de dados sobre os hábitos de vida dos pacientes, destacando sua importância para a elucidação diagnóstica.

We report the clinical, epidemiological, and radiological features of hypersensitivity pneumonitis, a rare cause of respiratory failure in pediatrics. An 8-year-old male patient, from a rural area, was admitted to a tertiary care facility for fever, vomiting, dry cough, progressive dyspnea, anorexia, and weight loss for 15 days, associated with tachypnea, respiratory effort, hypoxia, and fine rales at the right base. Chest computed tomography showed ground-glass opacities, diffuse involvement, and predominantly centrilobular and acinar distribution, characteristic of hypersensitivity pneumonitis. In the review of living conditions and habits, the patient's guardian reported the presence of an aviary and interaction with birds of various species in the residence, supporting the presumptive diagnosis of hypersensitivity pneumonitis, after ruling out other causes of respiratory failure. Corticosteroid therapy was started with methylprednisolone 1 mg/kg/day for 7 days, followed by tapering over subsequent weeks. The patient's condition improved, and he was discharged home after receiving guidance on environmental control and the importance of removing the triggering antigens. Hypersensitivity pneumonitis is an uncommon syndrome in the pediatric population. It can lead to respiratory failure and pulmonary fibrosis and should therefore be considered in patients with a positive epidemiological history. Due to its rarity and similarity to other respiratory diseases, collecting data on patients' lifestyle habits is highlighted as an important diagnostic tool.