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Left ventricular noncompaction cardiomyopathy (LVNC) is characterized by prominent trabecular meshwork, and it is thought to result from arrest of the normal compaction process during embryogenesis. Patients with LVNC may be asymptomatic or have symptoms ranging from heart failure to stroke, life-threatening arrhythmias, or sudden death. The frequency of LVNC in children has increased with longer clinical courses. About 80% of patients with trisomy 13 have a congenital cardiac abnormality, but a clinical description of LVNC with trisomy 13 is lacking because of its poor prognosis and lack of awareness about LVNC. We described a patient with trisomy 13 who was diagnosed with LVNC-dilated phenotype and died suddenly, as well as two additional patients with LVNC. All three patients had chronic heart failure without congenital heart disease and were treated with diuretics. To manage trisomy 13 with or without congenital heart disease, cardiac disease such as LVNC may present at any ages, and therefore cardiac evaluation should be considered as a part of their appropriate management.

Meckel's diverticulum (MD) is the most prevalent congenital anomaly of the gastrointestinal tract and often presents a diagnostic challenge. Patients with trisomy 18 frequently have MD, but the poor prognosis and lack of consensus regarding management for neonates has meant that precise information on the clinical manifestations in infants and children with MD is lacking. We describe the cases of three children with trisomy 18 who developed symptomatic MD. Intussusception was diagnosed in Patient 1, intestinal volvulus in Patient 2, and gastrointestinal bleeding in Patient 3. All three patients underwent surgical treatment and only the Patient 1 died due to pulmonary hypertensive crisis. The other two patients experienced no further episodes of abdominal symptoms. In patients with trisomy 18, although consideration of postoperative complications and prognosis after surgical treatment is necessary, symptomatic MD should carry a high index of suspicion in patients presenting with acute abdomen.

Ataxia-telangiectasia-like disorder (ATLD) is a rare autosomal recessive disorder, and has symptoms similar to ataxia-telangiectasia (AT). ATLD is caused by mutations in the MRE11 gene, involved in DNA double-strand break repair (DSBR). In contrast to AT, ATLD patients lack key clinical features, such as telangiectasia or immunodeficiency, and are therefore difficult to be diagnosed. We report a female ATLD patient presenting with hypergonadotropic hypogonadism and hypersegmented neutrophils, previously undescribed features in this disorder, and potential diagnostic clues to differentiate ATLD from other conditions. The patient showed slowly progressive cerebellar ataxia from 2 years of age, and MRI revealed atrophy of the cerebellum, oculomotor apraxia, mild cognitive impairment, writing dystonia, hypergonadotropic hypogonadism with primary amenorrhea, and hypersegmented neutrophils. Western blot assay demonstrated total loss of MRE11 and reduction of ATM-dependent phosphorylation; thus, we diagnosed ATLD. Genetically, a novel missense mutation (c.140C>T) was detected in the MRE11 gene, but no other mutation was found in the patient. Our presenting patient suggests that impaired DSBR may be associated with hypergonadotropic hypogonadism and neutrophil hypersegmentation. In conclusion, when assessing patients with ataxia of unknown cause, ATLD should be considered, and the gonadal state and peripheral blood smear samples evaluated.

BACKGROUND The high incidence of glucocorticoid-responsive complications in extremely preterm infants suggests the immaturity of their adrenal function; however, knowledge of the hypothalamus-pituitary-adrenal (HPA) axis in extremely preterm infants is limited. METHODS To clarify the characteristics of the HPA axis in preterm very low birthweight (VLBW) infants, we performed CRH tests repeatedly: at about 2 weeks of age and at term (37-41 weeks of postmenstrual age) for 21 VLBW infants with a gestational age (GA)

Using comprehensive genetic studies on neuronal stem/progenitors cells through genome-wide screening with oligonucleotide arrays, we identified an endoplasmic reticulum (ER) -resident protein, Tweety homologue 1 (ttyh1). Ttyh1 encodes a glycosylated protein composed of five predicted transmembrane segments and a C-terminus that is enriched in negatively charged residues capable of Ca2+ binding. Ttyh1-containing membranes changed to segmented tubuloreticular structures during mitosis, suggesting that the ER-containing Ttyh1 could be responsible for Ca2+ sequestration and Ca2+ concentration regulation during mitosis. Ttyh1 inactivation in mice resulted in early embryonic lethality before organization of the nervous system, revealing that ttyh1 is essential in murine embryonic development. Our findings indicate that Ttyh1 plays an indispensable role during mitosis in early embryogenesis, possibly by maintaining Ca2+ homeostasis in the ER. Developmental Dynamics 239:2233–2245, 2010. © 2010 Wiley-Liss, Inc.

Background: The natural history of short-segment Barrett's esophagus (SSBE) is not fully understood. We, thereby, conducted a retrospective cohort study to provide further information about chronological change of SSBE. Materials and methods: A total of 174 cases undergoing upper gastrointestinal endoscopy from April 1980 to October 2002 were diagnosed to have SSBE based on the definition of Barrett's esophagus proposed by the Japanese Society for Esophageal Diseases. A cohort of 100 patients with SSBE less than 3 cm was enrolled in the present study. The mean follow-up period was 76.2 ± 59.9 months and 4.27 ± 2.66 endoscopic examinations were performed on each patient. The cumulative probability of elongation of SSBE to 3 cm or longer was estimated by the Kaplan-Meier method. Then, independent contributing factors to its elongation were determined using Cox's proportional hazard model. Results: Elongation of SSBE to 3 cm or longer occurred in 30 patients (30%) during the follow-up period. The cumulative 5-year probability of elongation of SSBE to 3 cm or longer was 18.4%. Hiatal hernia, severe reflux esophagitis and SSBE 1 cm or longer at initial diagnosis were proven to be independent contributing factors to its elongation. Conclusions: The present study demonstrated that SSBE has a tendency to increase its length over time especially when it is accompanied by hiatal hernia or by severe reflux esophagitis.

Segmental nerve defects have been repaired with nerve grafts. However, regenerating fibers must go through two coaptation sites, and donor site morbidities are inevitable. We elongated the distal nerve segment using a tissue expander and reconnected the nerve. We compared these results with those of nerve grafting. Nerve injury models were created in the median nerves of both forelimbs in 27 rabbits. The right nerve was repaired by elongation, and the left by tibial nerve grafting. The length of the elongation was the same as that of the graft in each animal. Eight rabbits had a 10-mm segment repaired, 9 had a 15-mm segment repaired, and 10 had a 20-mm segment repaired. Evaluated outcomes were nerve conduction velocity, contractile force of the flexor muscle, axons number, and fiber diameter. The elongated and grafted groups did not differ substantially on any outcome. Distal nerve elongation could be an alternative to nerve grafting for repairing large nerve defects.

We report here a patient with chronic active hepatitis who had no markers for hepatitis viruses and no hyper-gamma-globulinemia, but had high titers of antimitochondrial antibody. Serum levels of alkaline phosphatase were normal, and antinuclear antibody, antismooth muscle antibody, and antiliver kidney microsome antibody tested negative. The titers of antimitochondrial antibody exceeded 1:640, and the positivity for anti-M2 was ascertained by using both ELISA and immunoblot with beef-heart mitochondria and a recombinant pyruvate dehydrogenase E2 subunit as antigens. This patient responded to ursodeoxycholic acid (UDCA) therapy in the beginning, but her hepatitis flared up during UDCA therapy. In contrast, she responded completely to corticosteroid therapy. The clinical course and histological findings of this patient strongly suggest that this patient has autoimmune hepatitis.

A 54 year- old man was admitted to our hospital because of general fatigue and marked hepato -splenomegaly. Laboratory findings revealed marked leukocytosis including atypical lymphocytosis and abnormalities in the hepatic function tests. A diagnosis of acute stage of adult T-cell leukemia (ATL) was made from his positive serum anti-ATL (HTLV-1). Since the complication of alcoholic liver disease could not be ruled out because of his heavy consumption of alcohol, hepato - splenomegaly and abnormal liver function tests, a laparoscopic examination was performed. The laparoscopic findings of the liver revealed it was yellow / brown in color, and showed swelling of both lobes, granular unevenness and diffuse white markings on the surface. Histological findings of the liver biopsy specimen revealed an enlargement of the portal areas with diffuse infiltration of ATL cells but no evidence of alcoholic liver diseases. It is suggested that the white markings on the liver surface, which showed slight elevation unlike those seen in chronic hepatitis, might reflect an infiltration of ATL cells.

The CCALD, which is caused by a mutation of the ABCD1 gene that encodes a peroxisomal membrane protein, progresses to a stage where the patient is in a vegetative state and can cause death within 3-5 yr after the appearance of neurological symptoms. Although HSCT is the only means of preventing the progression of this disease, HSCT is currently recommended only for cases diagnosed in the early stages. Previous reports on HSCT in advanced CCALD have indicated that the complications of the HSCT procedure seem to outweigh its benefits with respect to survival and neurological outcome. In this case, we successfully treated advanced CCALD with CBT using a reduced-intensity conditioning regimen to reduce regimen-related toxicity and transplant-associated morbidity and mortality. Neither neurological deterioration nor deterioration of MRI abnormalities were observed during the clinical course. We report that CBT using the reduced-intensity conditioning regimen was well tolerated, stopped disease progression and contributed to a good neuropsychological outcome in this case of advanced CCALD.

of 17 cases of asymptomatic primary biliary cirrhosis (PBC), seven cases whose ALP (alkaline phosphatase) was less than twice the upper limit of the normal range were defined as being “early PBC”, and ten cases whose ALP was more than twice the upper limit of the normal range were defined as being “classical PBC” in order to investigate their clinical pictures and laparoscopic findings. There were no significant differences between early PBC and classical PBC in terms of sex differences, age, a positive rate of antimitochondrial antibody and histological findings. On the other hand, apart from IgM being as high as 86%, laboratory studies indicated that early PBC cases showed relatively low abnormal levels of GOT (29%), ALP (43%), γ-GTP (57%), and erythrocyte sedimentation rate (ESR) (57%). Classical PBC cases exhibited almost 100% abnormal values. Laparoscopic examination of all the classical PBC cases revealed such specific characteristics of PBC as reddish patches, protuberance formations and mesh-like white markings. Early cases revealed one of the following nonspecific findings: proliferation of the portal veins, irregularity of the liver surface, dullness of the liver edge and enlargement of the liver. However, in terms of the specific findings, none of the patients had reddish patches, and half of the patients demonstrated protuberance formations and mesh-like white markings in part of the liver.