Single-gene disorders offer unique opportunities to shed light upon fundamental physiological processes in humans. We investigated an autosomal-recessive phenotype characterized by alopecia, progressive neurological defects, and endocrinopathy (ANE syndrome). By using homozygosity mapping and candidate-gene analysis, we identified a loss-of-function mutation in RBM28, encoding a nucleolar prote...

Fahr's disease or Fahr's syndrome is a rare neurodegenerative disorder characterized by abnormal symmetrical calcifications of the basal ganglia, thalami, sub-cortical hemispheric white matter and deep cerebellar nuclei. It can be idiopathic or associated with an endocrinopathy, frequently with parathyroid disorder. Clinical spectrum of the disease is wide ranging from neurological features lik...

The present case showed M protein spike with varying type of plasma dyscarasias, ascites, gynaecomastia, impotence and mild acanthosis. POEMS syndrome is a rare multisystem disorder involving polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy and skin changes. It usually manifests in 5–6 decade of life with a mean survival period of 8 years. We report a case of a 56 years old m...

BACKGROUND Polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes (POEMS) syndrome is an uncommon condition related to a paraneoplastic syndrome secondary to an underlying plasma cell disorder. Among the myriad of manifestations of the disease, ocular signs and symptoms are relatively prevalent, affecting about half of all patients with the disease. OBJECTIVE To...

Hyperthyroidism is recognised as the most common endocrinopathy of older cats, however, despite worldwide occurrence, the pathogenesis of feline hyperthyroidism remains unclear. A number of epidemiologic studies have identified risk factors, however; as yet, none have been shown to cause hyperthyroidism. Traditional methods of managing feline hyperthyroidism include thyroidectomy, anti-thyroid ...

As potential hydrogen storage mediums, ammonia borane and its derivatives have been paid an increasing attention owing to their higher hydrogen capacities and facile dehydrogenation properties under moderate conditions. In this chapter, we presented extensive studies on thermodynamic tailoring of dehydrogenation of metal amidobor‐ anes, metal borohydride-ammonia borane complexes, and metal amid...

To the Editor-Dr. Rosen’ provides a comprehensive review of anes thesia for the pregnant surgical patient, including some recommendations for the increasingly frequent procedure of laparoscopy during pregnancy. One of his recommendations is the use of nitrous oxide in place of carbon dioxide for establishing pneumoperitoneum. This is a major departure from current clinical practice and deserves...

POEMS syndrome is a disease of unknown pathogenesis. The acronym stands for the disease’s main clinical manifestations: polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy and skin disorders. Recent studies suggest association genetic mutations with immunoglobulin λ. We report case 56-year-old male patient 10-month picture, whose initial signs symptoms were lower limb edema hype...