A Case of Cardiac Undifferentiated Pleomorphic Sarcoma With Right Ventricular Outflow Tract Obstruction.

Malignant tumors originating from the heart are extremely rare. Here, we report a case of severe right ventricular outflow tract (RVOT) stenosis in a 67 year-old woman caused by a massive intimal sarcoma that required venous-arterial extracorporeal membrane oxygenation to support systemic circulation. Surgical resection and RVOT reconstruction with tricuspid and pulmonary valve replacement were performed. The pathological diagnosis was cardiac undifferentiated pleomorphic sarcoma. Although the patient was discharged 65 days after surgery in good condition, she subsequently died from multiple metastases detected in the early phase after surgery.

Six-month survival of a monochorionic monoamniotic twin with sirenomelia.

BACKGROUND: Sirenomelia is a congenital malformation of the lower body characterized by a single midline lower limb and severe urogenital and gastrointestinal malformations. Sirenomelia is rare (estimated incidence of approximately 1/100,000) and usually lethal in the perinatal period. CASE: A 2,042 g Japanese male infant, one of monochorionic monoamniotic twins, was born at 34 weeks of gestation by elective caesarean section. Sirenomelia was prenatally diagnosed. Single midline lower limb, bilateral dysplastic kidneys, an omphalomesenteric fistula, colon atresia, imperforate anus, indiscernible genital structures, and myelomeningocele were detected at birth. The amniotic fluid volume was normal throughout the pregnancy course, which led to appropriate lung maturation of the twin with sirenomelia. Although renal replacement therapy was initiated soon after birth, stable peritoneal dialysis was difficult because of the limited intraperitoneal space, and the infant frequently developed peritonitis. He died of sudden cardiorespiratory arrest at 6 months of age. Postmortem examination showed bilateral dysplastic kidneys, agenesis of the ureters and urinary bladder, abnormal branching and agenesis of the distal colon, bilateral inguinal hernias, and small testes. CONCLUSION: Infants with sirenomelia, even those with end-stage kidney disease at birth, may survive if they have a stable cardiorespiratory status at birth and renal replacement therapy is appropriately initiated.

Intra-abdominal desmoid-type fibromatosis successfully resected using laparoscopic fluorescence imaging with indocyanine green after intersphincteric resection for rectal cancer.

Successful resection of intra-abdominal tumors using indocyanine green (ICG) fluorescence imaging has not been reported. Here, we report a rare case of an intra-abdominal desmoid-type fibromatosis successfully resected using this technique after intersphincteric resection (ISR) for rectal cancer. One year after ISR for rectal cancer in a 47-year-old man, computed tomography showed a 50-mm intra-abdominal tumor near the left common iliac vein. Surgical resection was performed. The tumor was located in the mesentery of the remnant rectum after ISR. ICG fluorescence imaging confirmed the blood supply to the mesentery of the distal remnant rectum after tumor excision. The anal canal was successfully preserved without creating a permanent colostomy. The tumor was safely resected with resection margins, diagnosed as desmoid-type fibromatosis. No tumor recurrence was observed 6 months post-resection. This was the first case report to demonstrate the utility of this technique for an intra-abdominal tumor resection.

Mucolipidosis â ¡ and III with neurological symptoms due to spinal cord compression.

In mucopolysaccharidoses (MPS), spinal cord compression (SCC) resulting from glycosaminoglycan (GAG) accumulation is a critical complication that can cause significant neurological and respiratory morbidities. However, clinically similar disorders such as mucolipidosis types II and III (ML) with SCC have been scarcely reported. Herein, we report four patients with ML who had SCC. Brain MRI revealed progressive spinal canal stenosis and SCC. In addition, T2-weighted high signal changes in the cervical cord were detected in two cases. Severe cases of SCC were detected as early as 1 year of age. All cases had respiratory problems. One case showed severe hypoxia and another, severe sleep apnea. In two cases, respiratory insufficiency and tetraplegia rapidly progressed as SCC progressed. Then, the patients became bedridden and needed artificial ventilation. In addition, two of the four patients died of respiratory failure. The autopsy of one patient revealed a compressed cervical cord and marked dura mater thickening due to GAG accumulation. These findings suggest that the accumulation of substrates in the dura mater caused SCC in the patients with ML. Our cases indicate that SCC is expected to be a common and critical complication of ML and MPS. MRI evaluation of cervical involvements and careful clinical observation are required in patients with ML.

[A Case of Unresectable Liver Metastasis from Rectal Cancer Treated with Conversion Therapy].

We reported a case of rectal cancer with unresectable liver metastases treated with resection of the primary lesion followed by systemic chemotherapy with curative resection. A woman in her 40s was diagnosed with rectal RS carcinoma and unresectable liver metastasis, mFOLFOX6 plus panitumumab therapy was initiated after laparoscopic high anterior resection of the rectal lesion. After 5 courses of chemotherapy, significant shrinkage of the liver metastatic lesion and increase of the remnant liver volume were observed. Percutaneous transhepatic portal vein embolization( PTPE) was performed with the aim of further preserving remnant liver volume. Since the hepatic reserve was sufficient, the treatment strategy was to perform radical hepatectomy. Extended right hepatic lobectomy, S4 partial resection, and cholecystectomy were performed. The patient didn't relapse at 11 months after hepatectomy.

Variation of Gonadal Dysgenesis and Tumor Risk in Patients With 45,X/46,XY Mosaicism.

OBJECTIVE: To describe the gonadal features of patients with 45,X/46,XY mosaicism, and to evaluate the prevalence of gonadal tumor in different phenotypes. MATERIALS AND METHODS: The medical records of consecutive patients with 45,X/46,XY karyotype or its variants who had undergone gonadal biopsy or gonadectomy at a single institute between 1996 and 2017 were retrospectively reviewed. RESULTS: Of 34 patients with 45,X/46,XY mosaicism, a unilateral dysgenetic testis and a contralateral streak gonad was detected in 20 patients (59%), bilateral streak gonads in 9 (26%), and bilateral dysgenetic testes in 5 (15%). A gonad composed of both streak and dysgenetic testicular portions was observed in 7 gonads of 6 patients. All streak gonads were removed, and bilateral gonadectomy was performed in 15 patients raised as girls. Pathologic examination revealed gonadal tumors in 6 of the 34 (18%) patients, including a gonadoblastoma in 7 gonads among 5 patients and an association of dysgerminoma with gonadoblastoma in 1 gonad. All 6 patients who developed gonadal tumor had female genitalia. Postoperative course was uneventful except 1 boy. A seminoma was developed in his soritaly scrotal testis at the age of 16 years. CONCLUSION: The prevalence of gonadal tumor in patients with 45,X/46,XY mosaicism may vary according to the phenotype, and high in patients with female phenotype. Considering the increased risk of gonadal tumors in such patients, early investigation and individual management, including prophylactic gonadectomy, are recommended. In male patients, a close follow-up of the preserved testes is mandatory until adulthood.

Gonadal function and testicular histology in males with Prader-Willi syndrome.

CONTEXT: Cryptorchidism is common in Prader-Willi syndrome (PWS) males, but the testicular histology in childhood remains uncertain. The association between testicular histology and long-term gonadal function in PWS males is also unknown. OBJECTIVES: To evaluate the relationship between testicular histology in childhood and long-term gonadal function in PWS males. PATIENTS AND METHODS: Forty men with PWS were assessed longitudinally at our institute over the past 24 years. Clinical examinations and blood tests for LH, FSH and testosterone levels were compared with normal reference values. Tissue specimens were collected during orchiopexy and analyzed based on Nistal categories. RESULTS: Of nine testes available for pathological assessments, two showed favourable histology (Nistal I) and seven showed unfavourable histology (Nistal II or III). Of five postpubertal males with histology available, four reached puberty spontaneously, but only one reached Tanner stage 5. In a male with favourable histology, LH and FSH were high, but testosterone was normal, though below the average of the reference range. In three males with unfavourable histology, LH was normal, but FSH was highly elevated, and testosterone was at the lower limit of normal. One patient took hCG treatment to induce puberty; this patient showed favourable histology, but LH, FSH and testosterone were not elevated in adolescence. CONCLUSIONS: Testicular histology of PWS men in childhood varies from normal to Sertoli Cell-Only Syndrome. Regardless of the testicular histology in childhood, hypogonadism in PWS adults arises as a consequence of primary testicular dysfunction with highly elevated FSH and insufficient testosterone levels.

Prenatal findings of serpentine-like syndrome with congenital intrathoracic stomach: differential diagnosis from congenital diaphragmatic hernia.

Congenital rachischisis and brachioesophagus with secondary intrathoracic stomach, which is described as "serpentine-like syndrome", is a very rare condition. We report the prenatal findings of serpentine-like syndrome in a fetus at 18 weeks of gestation. The stomach was entirely elevated into the thoracic area, but the liver retained its normal position. Our initial diagnosis was isolated left congenital diaphragmatic hernia (CDH). At 20 weeks of gestation, the pregnancy was terminated, and a male newborn weighing 338 g was vaginally delivered. The autopsy findings revealed an extremely short esophagus, and the stomach was located in the posterior mediastinum as a result of congenital esophagus hiatal hernia. A severe case of rachischisis was identified from the cervical to thoracic vertebrae. The prognosis of congenital intrathoracic stomach associated with serpentine-like syndrome is extremely poor compared to the prognosis of isolated CDH. It is difficult to make a definite diagnosis by ultrasound alone; however, atypical findings, such as the presence of the entire intrathoracic stomach despite the normally located liver, may warrant further exploration. Obstetricians and neonatal clinicians presented with similar cases should be alerted to the significance of these prenatal findings and the differences in outcomes to ensure appropriate counseling of parents.

Fatal overwhelming postsplenectomy infection due to Streptococcus pneumoniae serotype 10A with atypical polysaccharide capsule in a patient with chromosome 22q11.2 deletion syndrome: A case report.

We report the first case of a teenage patient with chromosome 22q11.2 deletion syndrome who died of overwhelming postsplenectomy infection (OPSI) by Streptococcus pneumoniae despite appropriate prevention by pneumococcal vaccine. He had congenital heart disease and underwent several surgeries. Immunodeficiency had not been noticed clinically. Two years prior to death, splenectomy was performed for a drug-resistant idiopathic thrombocytopenic purpura and he was immunized with 23-valent pneumococcal polysaccharide vaccine (PPV23) 4 months after splenectomy. He died suddenly after a mild flu-like symptom. Autopsy was performed and OPSI was diagnosed. Blood culture was positive for S. pneumoniae. This isolated S. pneumoniae strain was serotypically un-typable by polyvalent serum agglutination test. On the contrary, multilocus sequence typing followed by DNA sequencing indicated the molecular serotype as 10A. Additional testing using monovalent and factor-specific sera confirmed the strain as serotype 10A. Ultrastructural observation of this S. pneumoniae strain showed that the polysaccharide capsule was thin and sparse. We speculate that the abnormal morphology of the capsule may have accounted for the polyvalent serum agglutination failure and may possibly be associated with severity of OPSI observed in this case. Chromosome 22q11.2 deletion syndrome is associated with certain immunodeficiency, especially susceptible to S. pneumoniae infections; however, fatal OPSI has not been reported. In addition to vaccination, prophylactic antibiotics may be necessary for these patients who are at risk of immunodeficiency.

Long-term Follow-up of Median Raphe Cysts and Parameatal Urethral Cysts in Male Children.

OBJECTIVE: To clarify the long-term outcome of median raphe cysts (MRCs) and parameatal urethral cysts (PUCs) in males, the clinical, anatomical, and histological findings of these cysts are described, along with treatment and follow-up. MATERIALS AND METHODS: Forty-six children diagnosed with PUCs and 23 children with MRCs at our institute during the past 14 years were retrospectively reviewed. The indications for surgery were symptoms or family preference. Telephone interviews of the parents or patients were conducted to ascertain the current condition of the cyst at a median age of 12.2 years. Fifty-nine children (85.5%) agreed to the telephone interview. RESULTS: Median age at first presentation was 41 months; 81% of children were asymptomatic. The main symptoms were voiding symptoms with PUCs and pain of the ruptured cyst in MRCs. A total of 41 (59%) children underwent complete excision at a median age of 58 months. No recurrences were encountered with surgery in all children. Of 28 children managed nonoperatively, 22 agreed to an interview. All children (95.5%), except for 1, remained free of symptoms. Six cysts showed spontaneous resolution at a median age of 24 months, and 15 improved or stabilized. No one was concerned about the genital appearance and opted for surgical intervention. CONCLUSION: Complete excision of the cyst is a durable procedure without recurrences in childhood. In the nonoperative management, several cysts may continue to be free of symptoms during childhood, and some cysts may resolve spontaneously during the first 2 years.

[A CASE OF PARATESTICULAR FIBROUS HAMARTOMA OF INFANCY].

Fibrous hamartoma of infancy (FHI) is a rare, benign soft tissue tumor arising from subcutaneous tissue in children during the first two years of life. The tumor is commonly found in the axilla, shoulder and upper arm. Paratesticular FHI is extremely rare. To date, only a case of paratesticular FHI has been reported in Japan. We present a case of paratesticular FHI in an 11-month-old boy who eventually needed orchiectomy due to local recurrence one month after the excision of the tumor. Ten months postoperatively, there was no sign of recurrence.

Correct information unit analysis for determining the characteristics of narrative discourse in individuals with chronic traumatic brain injury.

PRIMARY OBJECTIVE: To investigate differences between individuals with traumatic brain injury (TBI) and a control group regarding quantitative characteristics of narrative discourse including correct information units (CIUs). The secondary objective was to explore cognitive correlations with narrative discourse measurements. RESEARCH DESIGN: Case-control study. METHODS: Twenty-six individuals with TBI and 24 age-, gender- and education-matched subjects without brain injury were examined. Four-frame comic strips were used for elicitation of narrative discourse. Six variables of discourse measurements (total time, total number of units and CIUs, units per time, CIUs per time and CIUs per unit) were calculated. The relationships between the 6 discourse measurements and results of standard cognitive tests were also examined, including logical memory, working memory and executive functions. MAIN OUTCOMES AND RESULTS: The time efficiency for narrative discourse (i.e. total time, units per time and CIUs per time) was significantly decreased in the TBI group. Moreover, time efficiency was significantly related to measurements of working memory and executive function. The TBI group did not differ from the control group with regard to total number of units and CIUs and CIUs per unit. CONCLUSION: Decreased time efficiency is the most critical characteristic of narrative discourse in individuals with TBI.

Analysis of chromosome 19q13.42 amplification in embryonal brain tumors with ependymoblastic multilayered rosettes.

Recently, it was reported that ependymoblastoma and embryonal tumor with abundant neuropil and true rosettes (ETANTR) show 19q13.42 amplification at a high frequency, suggesting that these tumors may constitute a single entity. As ependymoblastic rosettes are the most prominent features in both subtypes, embryonal tumor with multilayered rosettes (ETMR) was proposed, for which 19q13.42 amplification represents a specific molecular hallmark. However, ependymoblastic rosettes are not specific to ependymoblastoma and ETANTR, and are also found in a few other embryonal tumors as well as immature teratomas, and knowledge on 19q13.42 amplification in these tumors is limited. In this study, we performed fluorescence in situ hybridazation (FISH) analysis and differential polymerase chain reaction (PCR), and detected 19q13.42 amplification in three out of four ETANTR, one ependymoblastoma and one medulloepithelioma with ETANTR components, whereas none of the two atypical teratoid/rhabdoid tumors (AT/RT) with ependymoblastic rosettes nor two immature teratomas with developing neuroectodermal structures showed such amplification, suggesting that medulloepitheliomas would possibly be included in ETMR, and ependymoblastic rosettes in AT/RT do not signify that these tumors constitute ETMR. Also, we found C19MC rather than miR-371-373 was amplified in one ETANTR, suggesting that C19MC miRNA cluster seems to be more closely linked to the pathogenesis of ETMR.

Change in morphology and oxytocin receptor expression in the uterine blood vessels during the involution process.

BACKGROUND: The histological changes in uterine blood vessels during pregnancy have been well investigated, but there have been few reports focusing on the changes in blood vessels during the involution process, especially within the first 24 h. We observed the process of uterine involution, focusing on the vessels of the resected uterus. METHODS: Paraffin-embedded uterine samples from 15 patients who underwent hysterectomy because of severe cervical laceration and uterine rupture were examined. The time between delivery and hysterectomy ranged from 15 min to 456 h. The specimens were stained with hematoxylin-eosin, elastica-van Gieson and an antioxytocin receptor antibody. RESULTS: Changes in the uterine vessels varied substantially based on their location. The intima in arteries of the endometrial side thickened within 5 h after delivery. On the serosal side, phlebosclerosis was demonstrated 6 weeks postpartum. Immunoreactivity for the oxytocin receptor (OTR) appeared in the muscular medias of arteries 5 h after delivery although it was not expressed before this period. CONCLUSION: Remodeling of uterine vessels involved thickening of the arterial intima and OTR expression in vessel walls during the first 5 h postpartum; the parameters normalized within 6 weeks. However, phlebosclerosis persisted for a long time on the serosal side.

Estimation of premorbid IQ in individuals with Alzheimer's disease using Japanese ideographic script (Kanji) compound words: Japanese version of National Adult Reading Test.

The National Adult Reading Test (NART) is widely used as a measure of premorbid IQ of the English-speaking patients with dementia. The purpose of the present study was to develop a Japanese version of the NART (JART), using 50 Japanese irregular words, all of which are Kanji (ideographic script) compound words. Reading performance based on JART and IQ as measured by the Wechsler Adult Intelligence Scale-Revised (WAIS-R) was examined in a sample of 100 normal elderly (NE) persons and in 70 age-, sex-, and education-matched patients with Alzheimer's disease (AD). The NE group was randomly divided into the NE calculation group (n=50) and the NE validation group (n=50). Using the NE calculation group, a linear regression equation was obtained in which the observed full-scale IQ (FSIQ) was regressed on the reading errors of the JART. When the regressed equation computed from the NE calculation group was applied to the NE validation group, the predicted FSIQ adequately fit the observed FSIQ (R2=0.78). Further, independent t-tests showed that the JART-predicted IQs were not significantly different between the NE and AD groups, whereas the AD group performed worse in the observed IQs. The reading ability of Kanji compound words is well-preserved in Japanese patients with AD. The JART is a valid scale for evaluating premorbid IQ in patients with AD.

Insulin independence after living-donor distal pancreatectomy and islet allotransplantation.

Rising demand for islet transplantation will lead to severe donor shortage in the near future, especially in countries where cadaveric organ donation is scarce. We undertook a successful transplantation of living-donor islets for unstable diabetes. The recipient was a 27-year-old woman who had had brittle, insulin-dependent diabetes mellitus for 12 years. The donor, who was a healthy 56-year-old woman and mother of the recipient, underwent a distal pancreatectomy. After isolation, 408 114 islet equivalents were transplanted immediately. The transplants functioned immediately and the recipient became insulin-independent 22 days after the operation. The donor had no complications and both women showed healthy glucose tolerance. Transplantation of living-donor islets from the distal pancreas can be sufficient to reverse brittle diabetes.

Relationship between behavioral disturbances and characteristics of patients in special units for dementia.

The aim of the present study was to examine the relationships between behavioral disturbances and patient characteristics of inpatients with dementia nationwide. The five patient characteristics used were age, gender, years of education, cognitive status, and walking ability. The subjects consisted of 730 inpatients selected by systematic sampling from 180 units that have specialized psychiatric beds for acute/long-term care of dementia. Clinical staff members assessed the 730 patients with the Mini-Mental State Examination (MMSE), and filled out a questionnaire for long-term care insurance, including 19 items relating to behavioral disturbances and walking scale. Five meaningful factors were identified out of the 19 behavioral disturbances by factor analysis. Linear regression analysis revealed that the factor 'psychotic/neurotic' was not related to any patient characteristics; 'aggression/negativistic' was related to male gender and a lower MMSE score; and 'dirty/destructive' and 'disorientation/fire management' were related to a lower MMSE score and higher walking score. The factor 'sexual behavior' included only one behavior at a very low frequency. These findings suggest that different behavioral disturbance factors have different correlations with patient characteristics, while cognitive dysfunction has a relatively important role in behavioral disturbances of inpatients with dementia.