Familial medullary thyroid carcinoma (FMTC) is an autosomal dominant inherited disease that has highly characteristic clinical features, including medullary thyroid carcinoma (MTC). Mutation of the RET proto-oncogene is known to be responsible for development of FMTC and for multiple endocrine neoplasia types 2A and 2B. Hirschsprung's disease is the most common form of structural intestinal obstructive disease in human newborns. Hirschsprung's disease is defined by the absence of neural crest-derived enteric ganglia along a variable length of the bowel that invariably involves the rectoanal junction. Co-segregation of FMTC and Hirschsprung's disease is uncommon; nevertheless, in 3 generations of 1 family, we observed 5 patients with FMTC, 2 patients with Hirschsprung's disease, and 1 patient with characteristics of both FMTC and Hirschsprung's disease. Moreover, a Cys620Ser mutation in RET was identified in 4 of the 8 patients. This mutation had both activating and inactivating effects on the RET (REarranged during Transfection) protein. There were individual differences in the penetrance of Hirschsprung's disease due to the RET mutation, but the penetrance of MTC was uniform and high. Genetic testing is important for making decisions about treatment and follow-up in families of this kind.

View full abstract

Objective: Retrospective study to determine whether new mammography imaging characteristics can improve identification of an isolated cluster of coarse heterogeneous and fine pleomorphic calcifications as benign or malignant.
Materials and Methods: Institutional review board approval and informed consent were obtained. The study included 123 women (mean age, 50 years: age range, 34-79 years), in whom mammograms had found pleomorphic clustered calcifications, but without abnormal ultrasound findings and who underwent stereotactically-guided vaccum-assisted breast biopsy. Pleomorphic clustered calcifications were classified on the basis of 5 characteristics density, heterogeneity of density, number, heterogeneity of size, and distribution area size (DAS) of calcifications in the mediolateral oblique view (multiplication of the greatest length by the width of the total zone of clustered calcifications in mm²), and correlated with pathological findings.
Results: The chi-square test showed significant differences in whether a calcification was malignant or benign only in terms of DAS of calcification (p 0.009). There were significant differences in the association with malignancy of a DAS of 32- to 55 mm² (p=0.023, odds ratio=4.22), and the association more likely with a DAS of 56 mm² or larger (p=0.01, odds ratio=5.55) than with a DAS smaller than 18 mm² as a reference.
Conclusion: The DAS is a new and reliable variable for differentiating between benign and malignant pleomorphic clustered calcifications. The DAS improves diagnostic accuracy and is useful for determining whether to proceed with biopsies.

View full abstract

Background: We sometimes treat children with acute lymphoblastic leukemia in whom neutrophil function is impaired at diagnosis. Transmission electron microscopy enables more accurate assessment by providing greater morphological detail. Using transmission electron microscopy, we have found 2 types of neutrophils in the peripheral blood of children: 1) amoeboid neutrophils, which are characterized as amoeboid cells with pseudopodia and few granules, and 2) round neutrophils with many granules at different stages and glycogen particles.
Aim: To assess the pathological role of amoeboid neutrophils, we investigated amoeboid neutrophils in the peripheral blood of children with leukemia.
Methods: Amoeboid neutrophils were examined in peripheral blood from 12 children with acute B-cell precursor lymphoblastic leukemia (BCP-ALL). Eight children with short stature served as healthy control subjects.
Results: The percentage of amoeboid neutrophils (per total neutrophil count) at onset or relapse of BCP-ALL was significantly higher than at remission. Children with short stature showed a lower percentage of amoeboid neutrophils than did children with acute leukemia.
Conclusion: The presence of fewer intracellular granules in amoeboid neutrophils suggests lower neutrophil activity. These results indicate that amoeboid neutrophils in patients with BCP-ALL have lower function at onset and relapse.

View full abstract

Background: When performing parathyroid or thyroid surgery, surgeons must distinguish parathyroid tissue from the surrounding thyroid tissue, to preserve healthy parathyroid tissue while excising diseased thyroid tissue or to completely remove pathological parathyroid lesions. Here, we explored the feasibility of labeling the parathyroid glands for easy identification by administering 5-aminolevulinic acid (5-ALA) orally to patients undergoing endocrine neck surgery, because 5-ALA accumulates in the parathyroid and has a fluorescent metabolite, protoporphyrin IX.
Methods: Twenty-nine patients about to undergo endocrine (parathyroid or thyroid gland) neck surgery were orally given 5-ALA, a nontoxic substance that occurs naturally in the human body and has no known major side effects. During surgery, we used blue light to excite protoporphyrin IX, the fluorescent metabolite of 5-ALA, and viewed the resulting bright red fluorescence through an optical filter.
Results: In the majority of the patients, the parathyroid glands were defined by a clear fluorescence. In 23 patients with pathological parathyroid tissue, the fluorescence enabled us to identify and completely remove diseased parathyroid tissue. In 3 patients with thyroid disease, we were able to easily remove diseased thyroid tissue, and an accidentally removed parathyroid gland was autotransplanted during surgery.
Conclusions: In all but a few cases, 5-ALA clearly labeled parathyroid tissue, allowing for its clean removal or preservation according to the purpose of the surgery. This simple, benign technique is extremely useful for identifying parathyroid tissue, whether pathological or normal, during endocrine neck surgery.

View full abstract

Objective and Methods: We examined the relationship between low fibrinogen levels (<200 mg/dL) and the severity of postpartum hemorrhage in singleton vaginal deliveries after 22 weeks' gestation complicated by postpartum hemorrhage requiring transfusion at our hospital.
Results: During a 10-year period, 61 women (0.38%) received transfusions owing to postpartum hemorrhage within the first 24 hours after delivery. Of these women, 13 (21%) had low fibrinogen levels (mean, 123±68 mg/dL) when postpartum hemorrhage was diagnosed, and the other 48 (79%) had normal fibrinogen levels (mean, 305±50 mg/dL). Neither total blood loss nor the incidence of additional therapies, such as hysterectomy, differed between the 2 groups of women. Women with low fibrinogen levels started to receive transfusions significantly earlier (98±58 minutes after delivery) than did women with normal fibrinogen levels (142±75 minutes after delivery, p=0.03) and received more units of fresh-frozen plasma (p=0.03).
Conclusion: The early transfusion of fresh-frozen plasma in women with postpartum hemorrhage and low fibrinogen levels might help prevent adverse outcomes.

View full abstract

A case of esophageal small cell carcinoma successfully treated with combination therapy consisting of preoperative chemotherapy, radiation therapy, and surgical resection. A 76-year-old man presented with a small cell carcinoma measuring 6 cm in diameter in the middle third of the thoracic esophagus. After preoperative therapy, the gross tumor was completely resected. The patient eventually died of metastatic disease 25 months after diagosis. We discuss the treatment of esophageal small cell carcinoma.

View full abstract

Spontaneous rupture of an aneurysm of the ovarian artery is usually considered a rare complication of pregnancy and the puerperium. However, we observed this emergent condition in a 51-year-old postmenopausal woman. We report here our experiences and consider lessons about diagnosis and management that can be drawn from this case and 5 other published cases in multiparous middle-aged women. These lessons include application of contrast-enhanced computed tomography to focus emergent care, surgical intervention, and association with systemic inflammatory response syndrome. We also consider how the cases might shed new light on the pathogenesis and evolution of this condition.

View full abstract

We report on a 59-year-old man with a 1-year history of forearm erythema, bilateral limb arthralgia, and muscle weakness. During the initial examination we observed infiltrative erythema of the forearm and muscle weakness and atrophy of the limbs. Blood tests revealed marked increases in myogenic enzymes. Because histopathological studies showed lymphocytic infiltration around the small blood vessels in the dermis and mucin deposition, we made a tentative diagnosis of dermatomyositis. However, the specific cutaneous manifestations of dermatomyositis, including heliotrope erythema and Gottron's sign, were absent, and the findings of electromyography were normal. A subsequent detailed examination revealed hypothyroidism and high titers of antithyroglobulin and antimicrosome antibodies, and we made a definitive diagnosis of Hashimoto's thyroiditis. The thyroid function and skin manifestations both improved after treatment with levothyroxine sodium. Dermatomyositis and Hashimoto's thyroiditis can exhibit similar characteristics, and caution is required because of the possibility of misdiagnosis.

View full abstract

Mucoceles of the appendix are a group of mucus-filled lesions causing obstructive dilation of the ileocecal appendix. We report a rare case of giant appendiceal mucocele. A 48-year-old woman, with no discomfort, was admitted to our hospital after a mass was detected in the right lower quadrant of the abdomen. The patient underwent right hemicolectomy on the basis of the clinical diagnosis of a possible appendiceal tumor. The final pathologic diagnosis was mucocele of the appendix.

View full abstract

Immunoglobulin (Ig) A vasculitis (IgAV), previously known as Henoch-Schönlein purpura, is a systemic IgA-mediated leukocytoclastic vasculitis that usually affects children. We report the usefulness of video capsule endoscopy in 2 adolescent patients with IgAV having gastrointestinal involvement. Both patient 1, a 15-year-old girl, and patient 2, a 14-year-old boy, presented with purpuric rash and abdominal pain. Video capsule endoscopy showed multiple areas of purpuric erythema throughout the small bowel in both patients and showed multiple ulcers with bleeding in patient 2. Patient 1 responded well to oral prednisolone at a dose of 0.5 mg/kg/day. However, in patient 2, prednisolone at a dose of 0.5 mg/kg/day failed to control the symptoms; therefore, the dose was increased to 1 mg/kg/day to provide relief. Video capsule endoscopy was safe in both cases and produced no side effects. In conclusion, video capsule endoscopy is a useful tool for evaluating small bowel lesions in patients with IgAV and provides valuable information for the treatment of IgAV with gastrointestinal involvement.

View full abstract