Beyond Vision and Hearing: A Case Report of Wolfram Syndrome.

Wolfram syndrome (WFS) is an uncommon autosomal recessive neurodegenerative disorder characterized by diabetes mellitus, diabetes insipidus, optic nerve degeneration, hearing impairment, and other abnormalities. Additionally, a portion of individuals experience neurological, endocrine, behavioral, and urinary tract disorders that make management more challenging. Here, we present a 22-year-old male who was diagnosed with type 1 diabetes at the age of 4 and received treatment with basal-bolus insulin therapy. He had blurring of vision and hearing loss at 13 years of age, and our evaluation revealed optic atrophy and sensorineural hearing loss. He had polydipsia and polyuria (intake/output of 5-6 L/day) despite a fairly controlled blood glucose level. Serum anti-diuretic hormone (ADH) was done, which confirmed the diagnosis of central diabetes insipidus. His sonogram and urinary flow studies revealed bilateral hydroureteronephrosis with reflux uropathy. We diagnosed him with neurogenic bladder disorder with detrusor sphincter dyssynergia. This patient had an early onset urological disorder with involvement of eyes and ears, with diabetes mellitus and diabetes insipidus, which satisfied the criteria of WFS. The genetic test confirmed the diagnosis. He is currently being managed with insulin and desmopressin.

A Case of Type 2 Protein S Deficiency Presenting as Cerebral Venous Thrombosis (CVT) in an 18-Year-Old Female.

Here, we report a case of cerebral venous thrombosis in an 18-year-old female. On evaluation, she was found to have type 2 protein S deficiency, which is the rarest form of protein S deficiency and is also known as a qualitative defect. Protein S is primarily synthesized by hepatocytes and undergoes vitamin K-dependent gamma-carboxylation. Mature protein S circulates in two states: free and bound to the complement component C4b-binding protein (C4b-BP). The free form of protein S acts as a cofactor for activated protein C. This case is unique as here, there is a qualitative effect that is responsible for the manifestations.

Dynamic diffusion lung capacity of carbon monoxide (DLCO) as a predictor of pulmonary microangiopathy and its association with extra pulmonary microangiopathy in patients with type II diabetes mellitus.

BACKGROUND AND AIM: Lung as a target end organ for microvascular disease often remains underdiagnosed. This study aims to assess occurrence of pulmonary microangiopathy among Type 2 diabetes mellitus (T2DM) using dynamic diffusion lung capacity of carbon monoxide (DLCO). METHODS: A total of 120 participants aged >18 years were enrolled in this study. Group 1 comprised T2DM with microangiopathy (n = 40), group 2 include T2DM without microangiopathy (n = 40), group 3 were healthy controls (n = 40). Individuals with underlying lung disease, smoking history, heart failure, urinary tract infection, macrovascular complications of diabetes, microalbuminuria due to other causes were excluded from the study. Using electronic spirometry, Forced Expiratory Volume in first second (FEV1), Forced Vital Capacity (FVC) was measured and FEV1/FVC ratio calculated. DLCO (%predicted) using single breath method was measured in sitting position followed by supine position and delta DLCO was calculated. DLCO measured was compared between the three groups. RESULTS: DLCO (median [IQR]) in sitting (78 [70-82.75]) and supine position (70 [62-84]) among group one was significantly decreased when compared to other two groups (p value < 0.001, p value < 0.001 respectively). Delta DLCO (median, [IQR]) among patients with diabetic microangiopathy (-6 [-8 to -2]) was significant on comparison with group two (4[2,6]) and control group (5[4,6]) (p < 0.001). Negative delta DLCO reflecting pulmonary microangiopathy was significantly associated with extrapulmonary microangiopathy (p value = 0.027). CONCLUSION: Postural variation in DLCO is a useful non-invasive test for identifying pulmonary microangiopathy among T2DM patients. Presence of pulmonary microangiopathy has significant association with diabetic nephropathy and retinopathy.

Pattern of Lung Involvement in Predicting Severity and Sequelae in Patients With COVID-19.

Background During the COVID pandemic, high-resolution CT scan has played a pivotal role in detecting lung involvement and severity based on the segments of the lung involved. The pattern of involvement was not considered, and our aim is to observe the pattern of lung involvement in predicting severity and guiding management protocol in patients with COVID-19. Methodology It was a prospective observational study conducted with 151 patients admitted with COVID-19 with a positive reverse transcriptase polymerase chain reaction test (RT-PCR) in a single tertiary care hospital in south India. Patients with pre-existing lung pathologies were excluded from the study. Eligible patients were then divided into mild, moderate, and severe categories based on Indian Council of Medical Research (ICMR) guidelines, and high-resolution computed tomography (HRCT) chest was done, findings of which were then categorized based on lung involvement; into ground glass opacities (GGO), interstitial involvement and mixture of both. These were then analyzed to determine their importance with respect to the duration of stay and severity of the disease. Results The data collected was analyzed by IBM SPSS software version 23.0 (IBM Corp., Armonk, NY, USA). The study population included 114 males (75.5%) and 37 females (24.5%). HRCT chest was done which showed 62.3% of patients had GGO, 14.6% had interstitial lung involvement, 18.5% had a mixture of both and 4.6% had normal lung findings. These findings, when compared to clinical categories of severity, showed a significant co-relation between pattern of involvement of the lung and the severity of the disease. It also showed significant co-relation with the duration of stay. Conclusion HRCT chest has proven to be useful in the determination of patient's severity and can guide with management. We suggest earlier initiation of steroids and anticoagulants in patients with interstitial involvement even for the patients not on oxygen therapy yet. It can be used as a triage modality for screening due to the advantage of presenting with immediate results as opposed to RT-PCR which might take hours and can delay treatment which can prevent worsening.