Body stalk anomaly represents an extreme maldevelopment of embryonic body folding and is characterized by absence of the umbilicus and umbilical cord. The failure of complete obliteration of the extraembryonic coelom is responsible for the absence of the umbilical cord formation and the wide-based insertio of the amnioperitoneal membrane onto the placental chorionic plate. We have analyzed 10 autopsy cases of various midline anomalies of the body that could best be classified into body stalk anomaly. All cases were either stillborns or dead immediately after birth. The pregnancy was interrupted due to this anomaly in 6 cases, and their gestational ages varied from 17 weeks to 37 weeks. The affected fetuses were characterized bt absent or vestigial umbilical cord, and ruptured amnion with direct amnioperitoneal connection without the mediation of the umbilical cord. Exomphalos with abdominal wall defect and serve scoliosis were characteristic components of this anomaly, that provided important clues in differentiating other similar anomalies. Other associated anomalies included neural tube defect, intestinal atresia, genitourinary and skeletal defects, pulmonary hypoplasia, single umbilical artery and narrow-spaced chest and abdomen, etc. These findings strongly suggest that anomaly of body stalk represents mechanical teratogenesis due to early amnion repture and subsequent effect, and should be categorized into amniotic band disruption syndrome.
Pregnancy ; Female ; Humans ; Teratogens

Three autopsy cases of arthrogryposis multiplex congenita are studied. They were two deadborns and one neonatal death. All of them had characteristic abnormalities involving multiple joints. Neither primary myopathy nor abnormalities of anterior horn cells of the spinal cord were detected in our cases. However, two cases had minor central nervous system anomalies. All four cases showed pulmonary hypoplasia of varying degree. Two of three cases showed facial dysmorphism such as micrognathia and low set ears, and one showed cleft lip and palate. Ventricular septal defect, umbilical hernia and ureteral anomalies were also associated.
Infant, Newborn ; Humans

No abstract available.
Hysteroscopy*

No abstract available.
Hysteroscopy*

Beckwith-Wiedemann syndrome is a rare clinical entity characterized by exomphalos, macroglossia, macrosomia, and renal hyperplasia/dysplasia. Although its entity is established, its etiology and obligatory features have not been settled. We report an autopsy case with the unusual involvement of the salivary gland. This infant was born to a 37-year-old mother as a normal full-term spontaneous delivery. At 11 days of age she developed with purulent eye discharge and weak sucking, and died suddenly. At autopsy the baby weighed 2,630 gm and the head circumference was 35 cm. She showed thick and prominent skin folds, bilateral aural fissures, macroglossia, hepatomegaly, cardiomegaly, dysmorphic kidneys, and nesidioblastosis. Both kidneys showed dysplastic tubules and hyperplastic cortical tissue enclosing the medulla. In this case there were characteristic findings in major and minor salivary glands with both acinar and ductal hyperplasia, and hypertrophy of mammary glands. Besides, she had generalized depletion of subcutaneous fat, immature buccal fat, patent ductus arteriosus, hyperlobation of the right lung, two accessory spleens, and hyperplasia of basophils and chromophobes in the pituitary gland. The lungs showed diffuse interstitial pneumonia and multiple fibrin thrombi. There were no adrenal cytomegaly, umbilical hernia and exophthalmos.
Infant ; Male ; Female ; Humans

Since early 1980's high resolution ultrasound has been world-widely used for detection of cranial lesions ininfants but not widely used in korea. Authors prospectively analysed ultrasonographic findings of 107 cases whichwere confirmed by CT, autopsy or follow-up studies as supplement. the distribution of 107 cases was intracranialhematoma 40 cases, hydrocephalus 36 cases, hypoxic-ischemic encephalopathy 10 cases, porencephalic cyst 5 cases,cephalhematoma 5 cases, agenesis of corpus callosum 4 cases, medulloblastoma 2 cases and each one case of A-Vmalformation, intraventricular cyst, Dandy Walker cyst, lipoma and hydranecephaly. We could conclude thatneurosonography of infants was very useful and effective method in detection of cranial lesions such asintracranial hematoma, especially germinal matrix hemorrhage or intraventricular hemorrhage in preterm infant,hydrocephalus, hypoxic-ischemic encephalopathy and congenital anomalies.
Agenesis of Corpus Callosum ; Autopsy ; Follow-Up Studies ; Hematoma ; Hemorrhage ; Humans ; Hydrocephalus ; Hypoxia-Ischemia, Brain ; Infant ; Korea ; Lipoma ; Medulloblastoma ; Methods ; Prospective Studies ; Ultrasonography ; Walkers

No abstract available.
Brain* ; Chromosomes, Human, Pair 10* ; Molecular Biology*

To study the basic pathological changes of small intestine in metagonimiasis, light- and electron microscopic studies were made, using a total of 21 cats which were experimentally infected with metacercariae of Metagonimus yokogawai. The metacercariae were obtained from naturally infected sweetfish (Plecoglossus altivelis) by digestion technique. The cats were divided in control, light-infection(10,000 metacercariae infected) and heavy-infection(50,000 metacercariae infected) groups. Cats were killed at the 5th, 10th, 15th day, and 4th, 8th and 10th week after the infection. And the small intestine was prepared for the study. Pathological studies comprised gross examination, worm distribution pattern, light microscopic examination and both transmission and scanning electron microscopic examinations. The results obtained were summarized as follows. Gross morphologic changes were the most marked during the first 2 weeks after infection. The gross abnormalities were severer in the heavily infected animals. The changes were dryness and listlessness of serosal surface due to dehydration, mushy and/or watery intestinal content, effacement of transverse nodes and enlargement of mesenteric lymph folds and Peyer's patches. After 4 weeks of infection, these changes became less marked showing a tendency to return to normal. The sectioned flukes were distributed from duodenum to proximal ileum. However, individual variation was marked in distribution. In the heavy-infection group, the locality of parasitism tended to extend more distally. The locality of M. yokogawai in the intervillous space was mostly in the lower-most portion of intervillous space, where they compressed and eroded epithelial cells probably due to mechanical damage to the structure. Very rarely the worms were found in lumen of Lierberkuehn's crypt, and reaching, in two occasions, into proprial lymphoid tissue. Light-microscopically the lesion was restricted in mucosa: Early mucosal changes were shortening, blunting, fusion, and thickening of the villi, crypt hypertrophy with consequent decrease of villus/crypt ratio, as well as stromal changes of edema, capilliary ectasia and marked inflammatory cell infiltration of lymphocytes and plasma cells. Goblet cells were markedly reduced in number as with depletion of its cytoplasmic content. In the later stages of infection, mucosa restored its normal configuration in spite of persistent parasitism of the worms. At the infection stage of 5-15 days, there was significant shortening of the microvillous height with varible destruction of glycocalyx in electron microscopic examination. With lapse of infection time, microvilli became to restore the normal pattern. With these morphological changes, it appears that diarrhea in experimental metagonimiasis would be related to the decrease of absorptive surface of the small intestine particularly in the early phase of infection. The significant changes seen in villi and microvilli might be due to massive intrusion or invasion of Metagonimus worms into the crypts, causing direct mechanical and possible host-immune response to the small bowel mucosa.
parasitology-helminth-trematoda ; metagonimiasis ; Metagonimus yokogawai ; pathology ; cat-intestine ; edema ; lymphocytes ; plasma cells ; goblet cell

This study investigated the efficacy and safety of melphalan, cyclophosphamide, and dexamethasone (MCD) as a salvage regimen for heavily treated relapsed or refractory multiple myeloma patients. We retrospectively analyzed a total of 27 patients who received the MCD regimen between April 2011 and November 2013. The MCD regimen consisted of oral melphalan 6.75 mg/m² on days 1–4, once-weekly dose of oral cyclophosphamide 300 mg/m2 and dexamethasone 20 mg/m² on days 1–4 and days 15–18. Each cycle was repeated every 28 days. The median age of the patients was 66 years and the MCD regimen was initiated at a median 37.7 months from diagnosis. Patients received a median of five regimens including autologous stem cell transplantation. The overall response rate was 25.9% (very good partial response 3.7%, partial response 22.2%) and 8 (29.6%) patients achieved a minor response. Median progression-free survival was 5.6 months (95% confidence interval [CI], 4.2–8.5) ; overall survival 11.7 months (95% CI, 5.4–16.6). Grade 3 or 4 neutropenia and thrombocytopenia were observed in 51.8% and 33.3%, respectively. Although the overall response rate is relatively low, the MCD regimen may have a role as a bridge to a novel regimen in heavily pretreated patients with MM.
Cyclophosphamide* ; Dexamethasone* ; Diagnosis ; Disease-Free Survival ; Humans ; Melphalan* ; Multiple Myeloma* ; Neutropenia ; Retrospective Studies ; Salvage Therapy* ; Stem Cell Transplantation ; Thrombocytopenia

Subconjuctival orbital fat prolapse is a disease, which can be diagnosed by clinical manifestations and treated with simple procedure. Intraconal fat prolapses through weakened tenon and protrudes into subconjunctival space. The mass shows convex anterior margin and places at superotemoral region. The mass shrinks when indented and enlarges by putting pressure on the globe. It is frequently seen on males over 60 years old. It usually occurs bilaterally, and does not seem to be in association with obesity. Computer tomography and magnetic resonance image of the orbit show the mass contiguous to intraconal fat. Partial excision with careful hemostasis is sufficient for treatment.
Hemostasis ; Humans ; Male ; Middle Aged ; Obesity ; Orbit* ; Prolapse*