Infantile hypophosphatasia combined with vitamin B6-responsive seizures and reticular formation lesions on magnetic resonance imaging: A case report.

Background: Hypophosphatasia (HPP) is a rare genetic disorder characterized by rachitic bone manifestations and a low serum alkaline phosphatase (ALP) level. It is caused by mutations in the tissue non-specific alkaline phosphatase (TNSALP) gene, which encodes the tissue non-specific isozyme of ALP. HPP patients exhibit various presentations depending on their age at onset, such as infantile HPP combined with vitamin B6-responsive seizures.

TBCD may be a causal gene in progressive neurodegenerative encephalopathy with atypical infantile spinal muscular atrophy.

Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disorder caused by survival motor neuron gene mutations. Variant forms of SMA accompanied by additional clinical presentations have been classified as atypical SMA and are thought to be caused by variants in as yet unidentified causative genes. Here, we presented the clinical findings of two siblings with an SMA variant followed by progressive cerebral atrophy, and the results of whole-exome sequencing analyses of the family quartet that was performed to identify potential causative variants.

Predictors and prognostic significance of operative complications in patients with hepatocellular carcinoma who underwent hepatic resection.

Aims: The morbidity rate of hepatic resection for hepatocellular carcinoma (HCC) remains high. To clarify predictors and the prognostic significance of operative complications in patients with HCC, we conducted a comparative retrospective analysis of 291 patients with HCC who underwent hepatic resection.

Methods: Operative complications included hyperbilirubinemia, ascites, hemorrhage, respiratory and cardiovascular diseases, bile leakage and abscess formation, renal failure, wound infection, and pleural effusion.

Retrorectal epidermoid cyst in an elderly woman: report of a case.

An epidermoid cyst is a common occurrence in the skin. Such a cyst occurring in the retrorectal space, however, is extremely rare. We herein present a case of retrorectal epidermal cyst in a 67-year-old Japanese woman.

Laparoscopic treatment for a case of ileal anisakiasis.

Small bowel anisakiasis is a relatively uncommon disease and there is only a few report of laparoscopic treatment for patients with small bowel anisakiasis. We report a case of ileal anisakiasis successfully treated by laparoscopy-assisted partial resection of the ileum. A 39-year-old Japanese man visited our hospital with right lower quadrant pain.

Short- and long-term outcomes after hepatic resection for hepatocellular carcinoma with concomitant esophageal varices in patients with cirrhosis.

Background: Hepatic resection for hepatocellular carcinoma (HCC) in cirrhotic patients with esophageal varices (EV) is often avoided because of poor liver function reserve. Outcomes of resection in such cases have not been fully investigated.

Methods: We conducted a retrospective study of 134 cirrhotic patients (Child-Pugh class A or B) who underwent hepatic resection for HCC, comparing short- and long-term outcomes in patients with EV (n = 31) to those in patients without EV (n = 103).

Prognosis of patients with intrahepatic recurrence after hepatic resection for hepatocellular carcinoma: a retrospective study.

Aims: Hepatic resection is the most effective therapy for hepatocellular carcinoma (HCC); however, intrahepatic recurrence is common. Predictors of survival after intrahepatic recurrence have not been fully investigated. To clarify the prognosis and choice of treatment of intrahepatic recurrence after hepatic resection, we conducted a comparative retrospective analysis of 147 patients with HCC who underwent hepatic resection.

Prognostic value of tumor-infiltrating FOXP3+ regulatory T cells in patients with hepatocellular carcinoma.

Aims: CD4+ CD25+ forkhead box P3 (FOXP3)+ T(reg) accumulate in malignant tumors and negatively regulate anti-tumor immunity. To determine the prognostic value of tumor-infiltrating regulatory T cells (T(reg)), we conducted a retrospective study on 164 patients with hepatocellular carcinoma (HCC) who underwent curative hepatic resection.

Methods: We investigated the number of tumor-infiltrating FOXP3+ T(reg) in formalin-fixed HCC specimens.

Hepatitis B virus infection predicts extrahepatic metastasis after hepatic resection in patients with large hepatocellular carcinoma.

Background: Although extrahepatic metastasis occurs rarely after hepatic resection for hepatocellular carcinoma (HCC), the prognosis of these patients is extremely poor. Predictors of extrahepatic metastasis have not been fully investigated.

Methods: To identify predictors of extrahepatic metastasis after resection, we retrospectively investigated 77 patients with HCC tumors > 50 mm in diameter who underwent hepatic resection.

Prognosis and postoperative lymphocyte count in patients with hepatocellular carcinoma who received intraoperative allogenic blood transfusion: a retrospective study.

Aims: The effect of perioperative blood transfusion on the survival of hepatocellular carcinoma (HCC) has not been fully investigated. To clarify the prognostic value of intraoperative allogenic blood transfusion, we conducted a comparative retrospective analysis of 224 patients with HCC who underwent hepatic resection.

Methods: We compared clinicopathologic background and survival after hepatic resection between patients who received intraoperative blood transfusion (n=101) and those who did not (n=123).