Vitamin D3 treatment for locally advanced thyroid cancer: a case report

There are many intricacies in the surgical treatment of locally advanced thyroid cancer, including the medical management of the remaining functional organ and any cosmetic impairments, which are sometimes very difficult to manage and eventually carry a relatively high morbidity and mortality. Here, we report on a case of a 65-year-old female with an extremely locally-advanced thyroid cancer involving both lobes of the thyroid, blood vessels, trachea and esophagus. Despite the severity of her condition, oral administration of vitamin D3 (alphacalcido) has stalled both the tumor growth and further increases of serum thyroglobulin (Tg) level, and has led to a good preservation of quality of life for the last two years. Several reports have previously demonstrated the efficacy of vitamin D3 to inhibit the proliferation of thyroid cancer cell lines in vitro, but clinical evidence has been limited so far. Therefore, this case report provides important evidence for the effectiveness of vitamin D3 therapy against advanced thyroid cancers.     

Usefulness and limits of CA-125 in diagnosis of endometriosis without associated ovarian endometriomas

BACKGROUND: The aim of this study was to evaluate the diagnostic significance of CA-125 for endometriosis without ovarian endometriomas. METHODS: Preoperative serum CA-125 levels were measured in 775 consecutive women diagnosed by laparoscopy or laparotomy with endometriosis, adenomyosis, leiomyomas, or normal pelvis. RESULTS: Receiver operating characteristic curve analysis revealed that the area under the curve for endometriosis without endometriomas was 0.788, significantly smaller than that for endometriosis with endometriomas (0.935, P < 0.05). In diagnosis of endometriosis without endometriomas, both the maximal accuracy of 78.8% and the maximal diagnostic value of 61.2% were obtained at the cutoff value of 20 U/mL. Negative predictive value was 78.0% at the cutoff value of 20 U/mL, whereas positive predictive value was 92.9% at the cutoff value of 30 U/mL. This range is clearly superior to the empirical single cutoff of 35 U/mL. CONCLUSIONS: In the diagnosis of endometriosis without endometriomas, combined use of two cutoff values for CA-125, 20 and 30 U/mL, provides improved diagnostic performance. However, the accuracy of using only CA-125 testing for diagnosis is still limited. Serum CA-125 testing can be done during initial screenings of women with possible endometriosis.     

Three young adult patients with Pelizaeus-Merzbacher disease who showed only waves I and II in auditory brainstem responses but had good auditory perception

Three young adult males with Pelizaeus-Merzbacher disease have been followed up since childhood. This disease is thought to be a dysmyelinating disorder of the brain during the prenatal period caused by gene mutations. The patients manifested horizontal nystagmus and severe rigidity of the extremities. Although the patients showed only waves I and II in auditory brainstem responses, they had relatively good hearing ability at approximately equal to dB. They could not speak words at all but could hear well and enjoy listening to conversation and music. One of them had a normal hearing threshold in pure-tone audiometry and a normal speech discrimination rate in speech audiometry. This can be explained by a nerve conduction blockade through dysmyelinated axons or the desynchronization of neurons and nerves responsible for the waves following waves I and II. At present, all three patients are living with their families. We report their present hearing, speech and language abilities.     

Histopathological diagnosis and prognostic factors in adrenocortical carcinoma

A great majority of adrenocortical tumors are benign, and many adrenocortical carcinomas (ACC) are obviously malignant at presentation. The histopathological diagnosis of ACC is occasionally difficult, particularly with stage I and stage II disease. The prognosis of ACC is generally poor. Surgery is the major treatment, with chemotherapy and radio-therapy being applicable to only restricted patients. The Weiss criteria are useful in diagnosing the common adult type of ACC. Histopathological prognostic factors of ACC have not been fully established because of the rarity of the disease. In this article, we first describe the current histopathological diagnostic and prognostic factors of ACC, highlighting the special types of ACC to which Weiss’s criteria are not fully applicable. These special type tumors include pediatric adrenocortical tumors, oncocytomas, and aldosterone-producing tumors of pure zona glomerulosa type. Then we present three cases with unusual small adrenocortical tumors. One patient had an unequivocal ACC showing metastatic disease. One had a histologically defined ACC with no metastasis or macroscopic invasion. The third was a pediatric patient with a tumor showing a nodule-in-nodule pattern with insulin-like growth factor II expression.     

Newly diagnosed acute aortic dissection: characteristics, treatment modifications, and outcomes

The objective of the present study was to examine cases of acute aortic dissection in order to analyze the clinical and diagnostic findings, and to summarize their treatment modalities, as well as their hospital outcomes. Between July 1998 and June 1999, we prospectively studied patients who were newly diagnosed as having acute aortic dissection at 25 hospitals in Mie prefecture. These cases were examined for their demographics, the characteristics of the clinical findings, diagnostic methods, treatment modalities according to the type of aortic dissection, and the early morbidity and mortality of the hospital outcomes. Of 66 newly diagnosed aortic dissections (43 males), 30 were type A and 36 were type B. Seventy-six percent of the cases arrived at a medical facility within 6 hours from the onset of symptoms. Frequent initial symptoms and clinical findings were pain in 95.5%, cardiac arrest and/or hypotension in 21%, pericardial effusion in 29%, pleural effusion in 25%, and neurological signs in 30%. Twenty-one patients underwent surgical repair, 36 were treated medically, and 5 underwent endovascular stenting. Overall early mortality was 12.1%, which included 2 DOA. Fifty percent of these deaths occurred within 48 hours, and 63% by 72 hours of the initial event. In spite of the relatively rare incidence of acute aortic dissection in our study, the calculated incidence was 4.0/100,000/year. The overall mortality rate was relatively low compared to the figures reported in the literature, suggesting the earliest possible diagnosis and timely intervention are critically important to attain successful outcomes.     

RSK2 gene mutations in Coffin-Lowry syndrome with drop episodes

Coffin-Lowry syndrome is an X-linked mental retardation disorder with dysmorphism caused by mutation of the ribosomal S6 kinase (RSK2) gene. Coffin-Lowry syndrome patients can experience unusual drop episodes whereby an abrupt loss of muscle tone and falling down can be induced by sudden, unexpected tactile or auditory stimuli. We detected a C913T (R305X) mutation in a female Coffin-Lowry syndrome patient with drop episodes. All mutations in our patient and those previously reported in patients with drop episodes result in premature truncation of the RSK2 protein in the N-terminal kinase domain or upstream of this domain.     

Pediatric neurology practice after adolescence

To evaluate the current situations in child neurology practice for the patients after adolescence, a questionnaire was sent to 205 child neurologists. Major issues encountered in such practice included inpatient facilities, community medical networks, a training system for adult medicine, and financial support for such patients. Not only a system for practice, but also a continuing information transfer system between child specialists and adult specialists is needed.