Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2

"Cap myopathy" or "cap disease" is a congenital myopathy characterised by cap-like structures at the periphery of muscle fibres, consisting of disarranged thin filaments with enlarged Z discs. Here we report a deletion in the beta-tropomyosin (TPM2) gene causing cap disease in a 36-year-old male patient with congenital muscle weakness, myopathic facies and respiratory insufficiency. The mutation identified in this patient is an in-frame deletion (c.415_417delGAG) of one codon in exon 4 of TPM2 removing a single glutamate residue (p.Glu139del) from the beta-tropomyosin protein. This is expected to disrupt the seven-amino acid repeat essential for making a coiled coil, and thus to impair tropomyosin-actin interaction. Missense mutations in TPM2 have previously been found to cause rare cases of nemaline myopathy and distal arthrogryposis. This mutation is one not previously described and the first genetic cause identified for cap disease.     

Mice lacking CD200R1 show absence of suppression of lipopolysaccharide-induced tumor necrosis factor-alpha and mixed leukocyte culture responses by CD200

BACKGROUND: CD200:CD200R interactions deliver immunoregulatory signals. A family of CD200Rs (CD200R1-5) has been described, and engagement of CD200R1 by its ligand CD200 suppresses LPS-induced macrophage cytokine production, decreases alloimmune responses in vivo and in vitro, and suppresses collagen-induced arthritis. METHODS: We generated C57BL/6 mice lacking the genomic exons encoding the extracellular domains of the CD200R1 molecule using transformation of ES cells and explored cell subtypes and immune responses in these mice. RESULTS: Myeloid cells/splenocytes from CD200R1(-/-) mice were not stained in FACS by anti-CD200R1 mAb. Stimulation of splenic tumor necrosis factor-alpha production by lipopolysaccharide was enhanced relative to control (+/+) mice and was not suppressed by addition of exogenous CD200Fc. Modulation of alloreactivity in mixed leukocyte cultures by CD200Fc depended upon CD200R1+ stimulatory cells, although maximal immunoregulation by CD200Fc occurred only when CD200R1+ T responder cells also were used. CD200Fc failed to suppress graft rejection in CD200R1(-/-) mice. CONCLUSION: CD200:CD200R1 plays an immunoregulatory role in vivo.     

From cyanosis to diagnosis: A case report on right atrial fibroma in a pediatric patient

A 3-year-old female patient presented with symptoms of cyanosis and intermittent eyelid edema, leading to the discovery of a lobulated mass in the right atrium, obstructing the superior vena cava. Despite the inability to entirely remove the mass due to its origins in the right atrium myocardium and its extension towards the sinoatrial node, successful surgical intervention and subsequent histopathological evaluation identified the mass as a fibroma, and postoperative symptoms were significantly alleviated.     

Mutations in the nebulin gene can cause severe congenital nemaline myopathy

Previously, we reported results indicating that nebulin was the gene causing the typical form of autosomal recessive nemaline (rod) myopathy. Here we describe the identification of mutations in the nebulin gene in seven offspring of five families affected by the severe congenital form of nemaline myopathy. One pregnancy was terminated on the grounds of foetal abnormality, while six affected infants died at ages ranging from the first day of life to 19 months. Only three of the six neonates were able to establish spontaneous respiration. Three had arthrogryposis. In three of the five families, the mutations were located in exon 184. These mutations are predicted to cause absence of the C-terminal part of nebulin.     

Magnesium Sulphate as an Adjuvant to Total Intravenous Anesthesia in Septorhinoplasty: A Randomized Controlled Study

Background The current study was designed to assess the effect of magnesium sulphate infusion on hemodynamic parameters, neuromuscular blocking, propofol consumption, serum concentration of magnesium ions, and recovery from anesthesia during total intravenous anesthesia. Methods For this study, 60 patients undergoing septorhinoplasty operations were randomly allocated to receive magnesium sulphate (group M) or saline (group C) intravenously. The patients in group M received 15% magnesium sulphate 50 mg/kg in 100 ml of saline, and those in group C received an equal volume of saline before induction of anesthesia followed by 8 mg/kg/h infusion of either magnesium sulphate (group M) or an equal volume of saline (group C) until the end of surgery. Anesthesia was induced and maintained with propofol, remifentanil infusions, and vecuronium in both groups. Results Propofol requirements were significantly lower in group M than in group C (p < 0.05). The hemodynamic variables were similar in the two groups. The neuromuscular potency of vecuronium was greater in group M than in group C (p < 0.05). The verbal numeric scale values for pain were found to be significantly lower in group M than in group C (p < 0.05). Whereas the serum magnesium was in the normal range at the induction of anesthesia in the both groups, it was significantly lower in group C than in group M postoperatively (p < 0.05). Conclusion Magnesium sulphate can be used safely as an adjuvant to total intravenous anesthesia for day case surgeries, with the effect from potentialization of neuromuscular blockade taken into consideration. Presented in part as an abstract at the Annual Congress of the Turkish Anaesthesiology and Reanimation Society, Antalya, Turkey, December 2005     

Ranitidine‐induced black tongue: A case report

Black tongue is a rare, benign, self‐limiting disorder caused by certain conditions and some medications. We report the first case of a child diagnosed with black tongue associated with ranitidine use. We report our case to emphasize the rare side effect of this frequently used drug. Health care professionals should be aware of the likelihood of ranitidine‐induced black tongue in clinical practice.     

Multiple regenerative nodular hyperplasia in the left infrarenal vena cava accompanied by abernethy malformation

The current study presents the case of a 19-year-old male patient who was detected with an increased alanine aminotransferase and aspartate transaminase levels during a preoperative evaluation of the right inguinal hernia operation and was later found to have Abernethy malformation accompanied by multiple regenerative nodular hyperplasia and left intra renal inferior vena cava. Regenerative nodular hyperplasia accompanying these two abnormalities is extremely rare and to the best of our knowledge, such a case has not been reported to date. Abdominal ultrasound (US) and color Doppler US, dynamic abdominal magnetic resonance imaging (MRI), and portography examinations were performed and a type 2 abernethy malformation, partial malrotation of the inferior vena cava, and regenerative nodular hyperplasia were detected. We aimed to discuss the radiological signs of these two accompanying abnormalities with a literature review.