Primary male factor infertility due to asthenospermia in maturity-onset diabetes of the young type 5 (MODY 5): uncommon presentation of an uncommon disease

Persistent Hyperinsulinaemic Hypoglycaemia and Maturity Onset Diabetes of the Young (MODY) due to Heterozygous HNF4A Mutations

Objective: Mutations in the human HNF4A gene encoding the hepatocyte nuclear factor 4 alpha (HNF-4α) are known to cause maturity-onset diabetes of the young (MODY), which is characterized by autosomal dominant inheritance and impaired glucose-stimulated insulin secretion from pancreatic ß-cells. HNF-4α has a key role in regulating the multiple transcriptional factor networks in the islet. Recen...

An uncommon presentation of pachyonychia congenital

A 10-month-old female presented with severe progressive wedge-shaped thickening and discoloration of all twenty nails. Further evaluations revealed palmoplantar keratoderma along with recurrent acral blisters causing residual crusted ulcers which were present during the past six months. Other findings include scalp kinky hair and dental caries. Patient history was remarkable for natal tee...

A Case of Empyema necessitans: An uncommon presentation of Empyema

ABSTRACTIntroductionEmpyema is an accumulation of pus in the pleural space. Empyema necessitans occurs when pus extends through the parietal pleura into the surrounding tissues.Case ReportWe present here a 4 month old babywith severe respiratory distress and anassociated huge boggy swelling over the left side of his chest and back. Evaluation revealed pus accumulated in the pleural space which ...

An unusual presentation of an uncommon disease

Extrapulmonary manifestations of sarcoidosis often go undiagnozed. Sarcoidosis should be considered in the differential diagnosis of cases presenting with parotid gland swelling, renal failure, and hypercalcemia. It's imperative to confirm the diagnosis with a tissue biopsy, as the condition is easily treatable with steroids.

Primary Hyperparathyroidism and Pancreatitis: an Uncommon Cause of Pancreatitis