However, the concentrations of AMP, 2,3-diphosphoglycerate, glucose, and glutamine were comparable in the DS vs. control populations. We conclude that cells of subjects with DS are in a pseudo-hypoxic state the cellular metabolic and bio-energetic mechanisms exhibit pathophysiological alterations that resemble the cellular responses associated with hypoxia, even though the supply of the cells with oxygen is not disrupted. This fundamental alteration may be, at least in part, responsible for a variety of functional deficits associated with DS, including reduced exercise difference, impaired neurocognitive status and neurodegeneration.

Primary ciliary dyskinesia (PCD) is a highly heterogeneous genetic disorder caused by defects in motile cilia. The hallmark features of PCD are the chronic infections of the respiratory tract, moreover, clinical manifestations include also laterality defects and risk of male infertility. Clinical phenotypes of PCD are the result of mutations in genes encoding components of axonema or factors involved in axonemal assembly. Recent studies have identified over 45 PCD-associated genes, therefore, molecular analysis represents a powerful diagnostic tool to confirm and uncover new genetic causes of this rare disease.

Here, we describe a female infant of Moroccan origin with normal pressure hydrocephalus (NPH) in addition to most common PCD symptoms. Transmission Electron Microscopy (TEM) and molecular tests, such as a Next generation Sequencing panel and a custom array CGH, were performed for diagnosis of PCD. TEM revealed outer dynein arm (ODA) defects, whilst molecular analyses detected a novel 6,9 kb microdeghput technologies in advancing our understanding of heterogeneous genetic disorders.

Sarcopenia is a syndrome characterized by progressive and systemic decreases in skeletal muscle mass and muscle strength. The influence or prognosis of various liver diseases in this condition have been widely investigated, but little is known about whether sarcopenia and/or muscle mass loss are related to minimal hepatic encephalopathy (MHE).

To clarify the relationship between MHE and sarcopenia and/or muscle mass loss in patients with liver cirrhosis.

Ninety-nine patients with liver cirrhosis were enrolled. MHE was diagnosed by a neuropsychiatric test. Skeletal mass index (SMI) and Psoas muscle index (PMI) were calculated by dividing skeletal muscle area and psoas muscle area at the third lumbar vertebra by the square of height in meters, respectively, to evaluate muscle volume.

This study enrolled 99 patients (61 males, 38 females). MHE was detected in 48 cases (48.5%) and sarcopenia in 6 cases (6.1%). Patients were divided into two groups, with or without MHE. Comparing groups, no significant differences were seen in serum ammonia concentration or rate of sarcopenia. check details SMI was smaller in patients with MHE (46.4 cm

/m

) than in those without (51.2 cm

/m

, P = 0.027). Similarly, PMI was smaller in patients with MHE (4.24 cm

/m

) than in those without (5.53 cm

/m

, P = 0.003). Skeletal muscle volume, which is represented by SMI or PMI was a predictive factor related to MHE (SMI ≥ 50 cm

/m

; odds ratio 0.300, P = 0.002, PMI ≥ 4.3 cm

/m

; odds ratio 0.192, P = 0.001).

Muscle mass loss was related to minimal hepatic encephalopathy, although sarcopenia was not. Measurement of muscle mass loss might be useful to predict MHE.

Muscle mass loss was related to minimal hepatic encephalopathy, although sarcopenia was not. Measurement of muscle mass loss might be useful to predict MHE.

Gastrointestinal (GI) mucormycosis is a rare and often deadly form of mucormycosis. Delayed diagnosis can lead to an increased risk of death. Here, we report a case of GI mucormycosis following streptococcal toxic shock syndrome in a virologically suppressed HIV-infected patient.

A 25-year-old Thai woman with a well-controlled HIV infection and Grave’s disease was admitted to a private hospital with a high-grade fever, vomiting, abdominal pain, and multiple episodes of mucous diarrhea for 3 days. On day 3 of that admission, the patient developed multiorgan failure and multiple hemorrhagic blebs were observed on all extremities. A diagnosis of streptococcal toxic shock was made before referral to Siriraj Hospital – Thailand’s largest national tertiary referral center. On day 10 of her admission at our center, she developed feeding intolerance and bloody diarrhea due to bowel ischemia and perforation. Bowel resection was performed, and histopathologic analysis of the resected bowel revealed acute suppurativa lack of well-established predisposing factors and non-specific presenting symptoms. Further studies in risk factors for abdominal mucormycosis are needed.

Postural balance is an important rehabilitation outcome, and screening stroke patients for confidence in postural balance during rehabilitation and before hospital discharge is recommended. Early supported discharge could improve postural balance self-confidence. This study aimed to investigate associations between patient self-confidence in postural balance and observer-assessed postural balance and anxiety during the first year after stroke. Whether very early supported discharge (VESD) affects self-confidence in postural balance compared with standard discharge was also evaluated.

A longitudinal trial for with data extracted from a randomized controlled study of 140 adults with confirmed stroke was conducted. The experimental group received VESD. The control group was discharged according to the standard routine. Postural balance was assessed with Berg Balance Scale (BBS), Timed Up and Go (TUG) test, and Falls Efficacy Scale. Anxiety was assessed with the Hospital Anxiety and Depression Scale. Spearmany assess their confidence in performing daily activities without falling. VESD does not substantially affect the correlation between self-confidence in postural balance and observer assessed postural balance and is safe to use as an alternative to standard discharge. Assessment of self-confidence can provide important information for rehabilitation planning and supporting the physical activity of patients after discharge.

Clinical Trials.gov NCT01622205 . Registered 19 June 2012 (retrospectively registered).

Clinical Trials.gov NCT01622205 . Registered 19 June 2012 (retrospectively registered).