hereditary sensory and autonomic neuropathies (hsan) are clinically and genetically a heterogeneous group of disorders. there are overlapping variants of hsan regarding clinical manifestations and pathologic findings. five types of hsan have been described by dyck (1993) and there are two other types which have been introduced recently. we report four siblings that seem to suffer from symptomat...

Dear Editor; We read with interest two recent papers on Congenital insensitivity to pain with anhidrosis, entitled " Congenital insensitivity to pain and anhydrosis (CIPA) syndrome; a report of 4 cases " by Daneshjou et al [1] and " Congenital insensitivity to pain with anhidrosis (HSAN type IV), extremely rare syndrome that can be easily missed by bone and joint surgeons: a case report " by Al...

A 19-year-old girl developed generalised anhidrosis following typhoid fever. Elaborate investigations disclosed nothing abnormal. A skin biopsy revealed the presence of atrophic as well as normal eccrine glands. This appears to be the third case of its kind in the English literature. It is postulated that typhoid fever might have damaged the efferent pathway of sweating.

Social contact is essential for survival in human society. A previous study demonstrated that interpersonal contact alleviates pain-related distress by suppressing the activity of its underlying neural network. One explanation for this is that attention is shifted from the cause of distress to interpersonal contact. To test this hypothesis, we conducted a functional MRI (fMRI) study wherein eig...

Lignocellulosic biomass is a sustainable industrial substrate. Copper-dependent lytic polysaccharide monooxygenases (LPMOs) contribute to the degradation of lignocellulose and increase the efficiency of biofuel production. LPMOs can contain non-catalytic carbohydrate binding modules (CBMs), but their role in the activity of these enzymes is poorly understood. Here we explored the importance of ...

INTRODUCTION Autonomic instability is considered a contributing factor in sudden unexpected death in epilepsy (SUDEP). The aim of this pilot study was to measure parasympathetic activity in sub-clinical seizures to investigate autonomic instability. MATERIALS AND METHODS A prospective study based on Video-electroencephalography (EEG)/electrocardiography (ECG)/oxygen saturation (SAO2) recordin...

BACKGROUND Cellulosic biomass is considered as a promising alternative to fossil fuels, but its recalcitrant nature and high cost of cellulase are the major obstacles to utilize this material. Consolidated bioprocessing (CBP), combining cellulase production, saccharification, and fermentation into one step, has been proposed as the most efficient way to reduce the production cost of cellulosic ...

BACKGROUND Cellulose is highly recalcitrant and thus requires a specialized suite of enzymes to solubilize it into fermentable sugars. In C. thermocellum, these extracellular enzymes are present as a highly active multi-component system known as the cellulosome. This study explores the expression of a critical C. thermocellum cellulosomal component in T. saccharolyticum as a step toward creatin...

The Clostridium josui cipA and celD genes, encoding a scaffolding-like protein (CipA) and a putative cellulase (CelD), respectively, have been cloned and sequenced. CipA, with an estimated molecular weight of 120,227, consists of an N-terminal signal peptide, a cellulose-binding domain of family III, and six successive cohesin domains. The molecular architecture of C. josui CipA is similar to t...

Allergic diseases and asthma belong to the most common chronic illnesses in childhood. Modern treatment enables a good control of these diseases, in many cases to such a degree that they do not interfere with any everyday activities. People suffering from allergies and asthma are thus sometimes seen as people with a chronic disease which almost everybody suffers from. However, this results in t...