Biallelic Pathogenic GFRA1 Variants Cause Autosomal Recessive Bilateral Renal Agenesis

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Tips and tricks of limb salvage: Proximal tibia

Due to its anatomical location, the upper end of the tibia poses unique problems while attempting limb salvage and appropriate reconstruction. This article attempts to highlight a few of the key steps, pearls and pitfalls while attempting this challenging procedure.     

Reversible complete atrioventricular block after percutaneous ASD device closure in a child <15 kg

Transcatheter device closure of atrial septal defect (ASD) in small children less than 15 kg may be associated with increased complications. Complete atrioventricular heart block (CHB) is a rare complication of ASD device closure in such a setting. We report the case of a 2-year-old girl, less than 15 kg, who underwent device closure of ASD with Amplatzer Septal Occluder and subsequently developed CHB 12 h after the procedure which resolved completely with steroid treatment on fifth day. Case report of a similar kind is rarely reported in the literature. Despite adequate postero-inferior margin CHB may still occur in small children as in our case.     

Endoscopic ultrasound-guided fine-needle aspiration of enlarged adrenals in patients with pyrexia of unknown origin: A single-center experience of 52 cases

Background

Fine-needle aspiration (FNA) of adrenals is needed in patients with pyrexia of unknown origin (PUO) and adrenal enlargement in absence of other diagnostic clues. Adrenals are easily accessible by endoscopic ultrasound (EUS) due to proximity; however, there is no systemic study available on FNA of adrenals in patients with PUO. The aim of this study was to evaluate the diagnostic yield and safety of EUS-FNA of enlarged adrenal in patients with PUO.

Methods

Data was analyzed from October 2010 to September 2016 at a single tertiary care center in northern India. EUS-FNA of enlarged adrenals was done in 52 patients for the etiological diagnosis of PUO in whom a definitive diagnosis could not be made with other means.

Results

The mean age was 48±14 years; 36 were males and 16 were females. EUS-FNA was done from the left adrenal in 50 patients and from the right sample in 2 patients. A technical success was achieved in 100% cases. The 19-G needle was used in the majority (75%) to the presence of necrotic areas in adrenals; median numbers of passes were 2. The cytopathological diagnoses were tuberculosis (n?=?36), histoplasmosis (n?=?13), lymphoma (n?=?2), and metastasis from undiagnosed neuroendocrine tumor of lung (n?=?1). Thus, a diagnosis could be made in 52/52 (100%) patients. None of the patients had any procedure-related complications.

Conclusions

EUS-FNA is a safe and effective method for evaluating etiology of PUO in patients with adrenal enlargement.

     

Pattern of relapses in sporozoite induced Plasmodium cynomolgi B infection in rhesus monkeys

The pattern of sequential relapses in 10 rhesus monkeys following inoculation of sporozoites of Plasmodium cynomolgi B has been studied after administering curative dose of chloroquine (5 mg/kg base X 7 days) to eliminate blood parasitaemia after each relapse. Observation for periods ranging from 109 to 245 days showed that the interval between first six relapses was 19.3 +/- 6.77 days (1st relapse), 20.9 +/- 8.43 days (2nd relapse), 22.8 +/- 8.55 days (3rd relapse), 27.8 +/- 10.0 days (4th relapse), 31.67 +/- 11.50 days (5th relapse) and 32.5 +/- 16.26 days (6th relapse). The results of this study indicate a gradual extension of the relapse interval in successive relapses.     

Cidea is associated with lipid droplets and insulin sensitivity in humans

Storage of energy as triglyceride in large adipose-specific lipid droplets is a fundamental need in all mammals. Efficient sequestration of fat in adipocytes also prevents fatty acid overload in skeletal muscle and liver, which can impair insulin signaling. Here we report that the Cide domain-containing protein Cidea, previously thought to be a mitochondrial protein, colocalizes around lipid droplets with perilipin, a regulator of lipolysis. Cidea-GFP greatly enhances lipid droplet size when ectopically expressed in preadipocytes or COS cells. These results explain previous findings showing that depletion of Cidea with RNAi markedly elevates lipolysis in human adipocytes. Like perilipin, Cidea and the related lipid droplet protein Cidec/FSP27 are controlled by peroxisome proliferator-activated receptor gamma (PPARgamma). Treatment of lean or obese mice with the PPARgamma agonist rosiglitazone markedly up-regulates Cidea expression in white adipose tissue (WAT), increasing lipid deposition. Strikingly, in both omental and s.c. WAT from BMI-matched obese humans, expression of Cidea, Cidec/FSP27, and perilipin correlates positively with insulin sensitivity (HOMA-IR index). Thus, Cidea and other lipid droplet proteins define a novel, highly regulated pathway of triglyceride deposition in human WAT. The data support a model whereby failure of this pathway results in ectopic lipid accumulation, insulin resistance, and its associated comorbidities in humans.