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Fatal amoebic liver abscess: an autopsy study.

An autopsy study of 20 cases is presented. The mean age was 32 years (range: 14-45). Four cases (20%) presented with jaundice. Another four (20%) had continuous fever with abdominal pain. Six had loose motions with blood and mucus in the stools. The mean duration of illness was 7.2 days. All cases were thin and emaciated. Liver was grossly enlarged (mean weight: 2680 g). The abscess was single in all cases except one. The right lobe was involved in 15 cases, the left in four and both in one. The average size of abscess was 13 cm. The abscess had ruptured in the abdomen in 3 patients, for which laparotomy was performed. Pulmonary involvement was seen in 3 cases. Colon showed ulceration in half the patients. In 2 cases perforation was also present. No cerebral involvement was present. A number of interesting features emerged from this study. Although amoebic liver abscess is a common disease, its diagnosis can be missed due to unusual presentation. In the present study, diagnosis of viral hepatitis, carcinoma lung, bacillary dysentery and enteric fever with perforation were made, which probably contributed materially to fatal outcome.

Adult↗

A study of psychological aspects of families living together with senile dementia.

Senile dementia is irreversible and runs a relatively chronic course, causing physical emaciation and psychological burden to families who must take care of senile dementia at home. However, there has been no report concerning a psychological study of families with senile dementia. Therefore, the psychological aspects of them were examined. Concerning the results, most caretakers of Alzheimer-type dementia with markedly associated psychiatric symptoms showed notably neurotic and depressive tendencies. By family parameters, these tendencies were strongly observed in families of caretakers alone. These results suggest that an expansion of local medical care, specifically geared to the home, is required, and more attention needs to be paid to the psychological aspects of caretakers.

Activities of Daily Living↗

Watery diarrhea, hypokalemia and achlorhydria syndrome. Morphological and immunohistological study.

A case of WDHA syndrome accompanied by a pancreatic tumor in a 44-year-old Japanese male is presented, the 6th case in Japan. Clinically, the patient suffered from unremitting watery diarrhea, hypokalemia and achlorhydria with marked anemia and jaundice. The patient died of emaciation, dehydration and bronchopenumonia, and an autopsy was performed. Autopsy examination revealed a hen's egg-sized tumor in the tail of the pancreas with metastases in liver, lungs and lymph nodes. In addition, bronchopneumonia and diabetic nephrosclerosis were present. Histologically, the tumor had the characteristics of an islet cell tumor, and histochemically the tumor cells were positive to Grimelius' stain which revealed non-B-islet cell features. Electron-microscopically, the tumor cells had electron dense round membrane-bounded granules resembling non-B-granules of pancreatic islet cells. With the immunoperoxidase procedure (PAP method), tumor cells nearly almost reacted to anti-vasoactive intestinal polypeptide (VIP) serum, which suggested that the tumor of the present case had the capability to produce VIP.

Achlorhydria↗

Bannayan syndrome--generalized lipomatosis associated with megalencephaly and macrodactyly.

This paper reports an autopsy case of a 5-year and 11-month-old girl with generalized subcutaneous lipomatosis, megalencephaly, and macrodactyly. Marked emaciation and poor prognosis were the characteristic findings of this case. We thought that this case was identical with a rare syndrome which was initially reported by BANNAYAN in 1971. Autopsy disclosed diffuse lipomatosis in the thoracic and abdominal cavity, and infiltration of fat tissue to the pancreas. Hyperplasia of the small intestinal mucosa and Peyer's patch, and a pedunculated polyp of the sigmoid colon were the unique findings which could not be seen in the previously reported cases.

Abnormalities, Multiple↗

Cockayne syndrome with recurrent acute tubulointerstitial nephritis.

A 12-year-old girl, who had been diagnosed as having Cockayne syndrome (CS), was admitted for emaciation and dehydration. On admission the patient had mild chronic renal failure (glomerular filtration rate: GFR 50 mL/min) and hyperuricemia. After rehydration, allopurinol was commenced for her hyperuricemia. Then, her renal function rapidly deteriorated (GFR 20 mL/min) with enhancement of proximal tubular dysfunction and hypertension. A renal biopsy showed that the patient had acute tubulointerstitial nephritis (ATIN). Based on this diagnosis, allopurinol was stopped and prednisolone was started (2 mg/kg per day), following which the renal tubular function improved. However, the proteinuria intensified to become nephrotic syndrome. After 1 month the patient developed a gastric ulcer. Famotidine was commenced but GFR deteriorated and renal proximal tubular dysfunction re-occurred. The renal pathology was evaluated by referring to the previous reports of renal pathology in CS. It is suggested that rapid deterioration of the renal function in CS patients might be the result of ATIN. In addition, the present nephrotic syndrome seemed to be accompanied by ATIN, as in other reports.

Acute Disease↗

Report of a Japanese girl with Marfan syndrome associated with insulin-dependent diabetes mellitus.

A 3 year old girl was admitted to hospital in an emaciated condition and with polydipsia in October 1974. Following the diagnosis of diabetes mellitus, she received treatment with insulin. On the first admission, a systolic murmur was noted at the apex of the heart. In 1981, the murmur was found to be continuous with a systolic click, and echocardiography demonstrated a mitral valve prolapse. In 1982, electrocardiography revealed left ventricular hypertrophy, and the patient's X-ray showed vertebral kyphoscoliosis. Ophthalmological examination revealed slightly impaired visual acuity and a mild case of cataracts in 1986. The patient grew to be tall and thin with arachnodactylia of the hands, fingers, feet and toes. These symptoms and findings were compatible with Marfan syndrome, although the ophthalmological findings are not specific for this disease. This patient is the first case in Japan of Marfan syndrome associated with insulin-dependent diabetes mellitus, although the relation between Marfan syndrome and IDDM remains unclear.

Cataract↗

A boy with psychosocial short stature followed up from infancy to adulthood.

A boy with psychosocial short stature who has been followed up from the age of 11 months to adulthood is described. The boy was the product of an unwanted pregnancy. The emaciated short boy gained weight and height markedly during a short-term stay at hospital, but lost weight and experienced minimal height gain at home. On the fourth hospital admission at the age of 6 years 3 months the boy weighed 10 kg and measured 85.7 cm, he was malnourished and exhibited strange behavior and had a voracious appetite. He was examined endocrinologically and provocative tests performed early after admission showed insufficient growth hormone secretion, although this recovered later at a time of catch-up growth. The boy was reared in an orphanage from the age of 6 years 5 months until the age of 15 years 3 months. His growth rapidly caught up to a normal rate, his abnormal behavior disappeared, and he demonstrated an increased IQ. He attained 169.5 cm at the age of 17.5 years and possessed normal secondary sexual characteristics. After graduating from senior high school the patient has been living happily by himself without intervention from his mother, and is working in a Chinese restaurant. The impaired relationship between the boy and mother has never been restored. The record of growth and development described in this case is the longest ever reported.

Body Height↗

Encephalopathy and cytomegalovirus colitis in an AIDS child.

A 2-year-old girl, who had prolonged thrush and spastic diplegia, was found to have a mother-to-child vertical transmission of human immunodeficiency virus type-1 (HIV). A brain computed tomography scan revealed a symmetrical calcification on the bilateral basal ganglia and periventricular white matter. She had an acquired immune deficiency syndrome (AIDS) encephalopathy of pure dominant pyramidal tract disorder without an intellectual deficit. Helper cell lymphocyte count (CD4) increased with the beginning of zidovudine (ZDV, also known as AZT) monotherapy but began to decrease after the 4th week to reach the baseline at 20th week. Zidovudine plus didanosine combination therapy was started at the 68th week, but because of intolerance, the combination was changed to ZDV plus lamivudine at the 98th week. By the 80th week, neither severe opportunistic infection nor deterioration of the neurological status was recognized, but chronic diarrhea appeared. The diarrhea advanced to the wasting syndrome at the age of 4 years and cytomegalovirus genome was confirmed in a biopsied specimen of the colon. Ganciclovir treatment was effective in stopping the diarrhea and increasing her bodyweight, but after the age of 5, resumption of diarrhea was followed by progressive emaciation and weakness. This work may provide some clues in treating children's AIDS.

AIDS Dementia Complex↗

Abnormal steroidogenesis in three patients with Antley-Bixler syndrome: apparent decreased activity of 17alpha-hydroxylase, 17,20-lyase and 21-hydroxylase.

BACKGROUND: Antley-Bixler syndrome (ABS) is characterized mainly by abnormal skeletal morphogenesis such as craniosynostosis and radiohumeral synostosis, and by ambiguous genitalia in some cases. The mechanisms resulting in these deformities have not been determined. METHODS: The adrenal and gonadal function of three Japanese ABS patients were evaluated. Patient 1 (17-year-old-male) had bilateral cryptoorchidism, delayed puberty and symptoms of glucocorticoid deficiency. Patient 2 (14-year-old male) and patient 3 (4-year-old female) presented with emaciation. Additionally, patient 3 had partial labial fusion and common urogenital sinus. In each patient, blood sampling for steroid analysis before and after rapid adrenocorticotropic hormone (ACTH) stimulation was carried out. Additionally, urinary steroids were quantified. Molecular analysis of CYP17 and CYP21A2 were also performed. RESULTS: All patients showed elevated basal 17alpha-deoxysteroid levels. Although the 17alpha-deoxysteroid levels further increased after rapid ACTH stimulation, 17alpha-hydroxysteroids including cortisol did not respond, suggesting impaired 17alpha-hydroxylation. Patient 1 and patient 2 showed low adrenal androgen blood levels both before and after rapid ACTH stimulation. Patient 3 showed lower than normal excretions of urinary androgens. Additionally, a prolonged ACTH stimulation in patient 3 failed to elicit significant increase of adrenal androgens. These findings suggested impaired 17,20-lyase activity. In contrast to attenuated 17alpha-hydroxycorticosteroids, notably cortisol, elevated 17alpha-hydroxyprogesterone (17OHP) levels were observed, not only in pubertal patients (1 and 2) but also in prepubertal patient 3, indicating impaired 21-hydroxylation. This assumption was supported by increased urinary 21-deoxycortisol metabolite excretion in patients 2 and 3. With the exception of a heterozygous mutation of CYP17 in one of the patients, other mutations of this gene or CYP21A2 were identified in any of the patients. CONCLUSION: Combined decreased 17alpha-hydroxylation, 17,20-lyase activity and 21-hydroxylation was detected in three ABS patients. Considering that the enzymes responsible are all cytochrome P450 enzymes and that another cytochrome P450 enzyme, lanosterol 14alpha-demethylase, has recently been shown to be impaired in an ABS patient, we speculate that dysfunction of a system which commonly regulates cytochrome P 450 activity may be responsible for the ABS phenotype.

Abnormalities, Multiple↗

Obturator hernia.

Four cases of strangulated obturator hernia are presented with a brief review of the literature up to 1980. All four patients were emaciated women over 50 years old and in all instances the hernia was on the left side. None of the cases was diagnosed preoperatively and all had Howship-Romberg's sign absent. A diagnosis of strangulated obturator hernia should always be considered in any elderly, thin female with clinical features of intestinal obstruction and without any history of previous abdominal operations. Three of the patients died due to delayed presentation, delayed operative interference and rupture of the gangrenous loop leading to septicaemia.

Aged↗

Plasma gonadotrophins and LHRH infusions in anorexia nervosa.

Nine female patients with anorexia nervosa were studied, three of them at different stages of weight gain. Basal plasma LH (luteinising hormone) was depressed in emaciated patients, but basal plasma FSH (follicle stimulating hormone) was normal. LH was significantly lower in patients who had been amenorrhoeic for less than 24 months than in those whose amenorrhoea was of longer duration. LH and FSH levels were stimulated by LHRH (luteinizing hormone releasing hormone), infused at a rate of 0.5 microgram/min for four hours. One patient, tested at 60% of standard weight, had no LH response. In all other patients below 70% of standard, the maximal LH response occurred within the first hour of infusion. In patients at higher weights, the LH response was biphasic, and the maximal level was reached during the last hour of the infusion. The FSH response, similarly, approached maximal during the first hour in patients below 70% of standard, but continued to rise throughout the infusion in patients at higher weights. Body weight expressed as a percentage of standard correlated significantly with both phases of the LH response, but not with the FSH response. Most previous authors have found an association between low body weight and depressed pituitary gonadotrophins in anorexia nervosa. The present findings further elucidate this relationship.

Adolescent↗

Photoreceptor cell dysplasia in two Tippler pigeons.

Two 12-week-old Tippler pigeons were evaluated for ocular abnormalities associated with congenital blindness. The pigeons were emaciated and blind. Biomicroscopy and direct and indirect ophthalmoscopy findings of the Tippler pigeons were normal with the exception of partially dilated pupils at rest. Scotopic (blue stimuli) and photopic monocular electroretinograms were extinguished in the blind Tippler pigeons. Histological and electron microscopy studies revealed reduced numbers of rods and cones, and an absence of the double cone complex. The photoreceptor cells' outer segments were absent, and the inner segments were short and broad. The number of cell nuclei in the outer and inner nuclear layers was decreased, and the internal and external plexiform layers were reduced in width. Photoreceptor cell endfeet with developing synaptic ribbons were present in the external plexiform layer. Inflammatory cell and subretinal debris was not seen. The electroretinographic, histopathological, and ultrastructural findings of the blind Tippler pigeons support the diagnosis of a photoreceptor cell dysplasia.

Animals↗

Emetine myopathy in the rat.

1 (-)Emetine (0.25-2.0 mg/kg i.p.) was administered to rats for up to 220 days. 2 At doses of 1.0 mg/kg or less, the animals continued to gain weight but more slowly than the untreated control animals. The physiological changes in the muscles from these animals were minimal; there was a small reduction in both the resting membrane potential and in the maximum rate of rise of the action potential. There was no atrophy or loss of muscle fibres although in the occasional muscle, hyaline fibres, necrotic fibres and split fibres were observed. There was a focal loss of myofibrillar adenosine triphosphatase (ATPase) and nicotinamide adenine dinucleotide tetrazolium reductase (NADH-TR) in Type II and Type III fibres, but no such loss in Type I fibres. 3 The animals receiving 2.0 mg/kg of (-)emetine gained weight slowly for up to 20 days but then rapidly lost weight and by 30 days they were weak and emaciated. The muscles from these animals were severly atrophied and the total muscle wet weight was reduced by almost 20%. 4 The strength of the muscles from these animals was measured in vitro using direct stimulation. They were weaker than normal both in absolute terms and when expressed in terms of tension developed/unit wet weight. 5 There was no evidence of either functional or structural denervation but surgically denervated muscles from animals in this group were indistinguishable from denervated muscles from normal rats. 6 Severe structural damage was obvious in the fibres of both extensor digitorum longus and soleus. Necrotic, hyaline and splitting fibres were common and the focal loss of myofibrillar ATPase and NADH-TR activity was extensive and occurred in Type I fibres as well as in Type II and Type II fibres. 7 It is concluded that the muscular weakness induced by (-)-emetine is due to a direct effect on the muscle fibres and that this occurs at a subcellular level. There is no evidence that functional or structural denervation plays any role in the aetiology of emetine myopathy in the rat.

Animals↗

The retropectoral transaxillary permanent pacemaker: description of a technique for percutaneous implantation of an "invisible" device.

This report describes a percutaneous, transaxillary approach for implanting permanent pacemakers in the retropectoral space. This approach was used in 17 patients; indications for the procedure included the need to find a new implantation site in patients with infections and multiple previous pacemaker pocket sites (2 patients), emaciation and absence of sufficient adipose tissue (4 patients), and cosmetic considerations (11 patients). No complications were encountered during the implantation and the results were uniformly excellent in all patients. The pacemaker was "invisible" in each case. We conclude that a percutaneous approach for implanting permanent pacemakers in the retropectoral region is safe and feasible. This approach is likely to be applicable to the implantation of transvenous antitachycardia devices.

Adolescent↗

Pseudoloma neurophilia n. g., n. sp., a new microsporidium from the central nervous system of the zebrafish (Danio rerio).

An unusual xenoma-forming microsporidium was discovered in the central nervous system of moribund zebrafish from a laboratory colony in Eugene, Oregon. Infected fish were often emaciated and lethargic, and histological examination commonly revealed severe myelitis and myositis associated with the infection. Based on its structure, development, and small subunit ribosomal DNA sequence it is unique among fish microsporidia. Spores are uninucleate, ovoid to pyriform, with a prominent posterior vacuole. Spores average 5.4 x 2.7 microm with 13-16 coils of the polar filament. The microsporidium produces xenomas within the spinal cord and hindbrain of fish, and xenomas contained sporophorous vesicles with up to 16 spores. Sporoblasts and presporoblast stages (probably sporonts) are found occasionally in small aggregates dispersed randomly throughout xenomas. It clustered in the "Ichthyosporidium group" along with other fish microsporidian genera based on rDNA sequence analysis. The rDNA sequence of the zebrafish microsporidium was most similar to that of Ichthyosporidium, but showed only 12.1% similarity and therefore this microsporidium can be considered a distinct genus and species, which we have named Pseudoloma neurophilia n. g., n. sp.

Animals↗

White monkey syndrome in infant baboons (Papio species).

Over 23 months, zinc toxicosis was diagnosed in 35 baboons aged 5-12 months in one galvanized metal and concrete cage complex with conditions that led to excessive exposure to environmental zinc. Clinical signs included reduced pigmentation of hair, skin, and mucous membranes (whiteness), alopecia, dehydration, emaciation, cachexia, dermatitis, diarrhea and, in six cases, severe gangrenous dermatitis of extremities. The syndrome was characterized by pancytopenia, elevated zinc and low copper serum concentrations, low vitamin D and bone-specific alkaline phosphatase levels, and atypical myelomonocytic proliferation of bone marrow. This syndrome emphasizes the importance of proper husbandry and cage design and indicates the potential of infant baboons as a model to study the effects of excessive zinc on development. This is the first report describing the epidemiologic and clinical presentation of zinc toxicosis in infant baboons in captivity.

Alopecia↗

Systemic arteriopathy in SIV-infected rhesus macaques (Macaca mulatta).

BACKGROUND: Severe disseminated vasculopathy was observed in two simian immunodeficiency virus (SIV)-infected rhesus macaques (Macaca mulatta). These animals developed clinical signs of AIDS, including lymphadenopathy, weight loss, diarrhea and collapse. RESULTS AND DISCUSSION: Grossly, both animals showed emaciation, lymphadenopathy, vegetations on the mitral valve, renal infarcts and a dilated intestine; one animal had multifocal hemorrhages in multiple organs. Histologically, both cases had disseminated arteriopathy characterized by intimal thickening and fibrosis with varying degrees of vasculitis. The lesion was prominent in the kidney, intestine, pancreas, liver, heart, lymph nodes, spleen and testis. Occasional venules had intimal thickening. Both cases had cytomegalovirus (CMV) infection with intranuclear inclusions, CMV antigen and nucleic acid; some inclusions were observed in endothelial cells within some of the vascular lesions in one of the two. These data suggest that CMV caused the unusual lesions.

Animals↗

Effect of chronic lead on the haematology, blood glutathione and bone marrow non-haeme iron of dogs.

Ten clinically normal male beagle dogs were used in the study. Two dogs served as control, 4 received 2 mg lead/kg daily and 4 received 5 mg lead/kg/daily. Lead was administered for 13 weeks, after which one-half of each experimental group was treated with calcium ethylene diaminetetraacetate (CaEDTA) for 5 days. All animals were then monitored for another 4 weeks. Blood lead levels, haematology, blood glutathione concentration, and the number of bone marrow cells with stainable iron granules were measured weekly during the 18-week experimental period. Clinical signs of poisoning were observed only in one dog in the high dose group after 6 weeks. The signed included emaciation, anorexia, muscular weakness, evidence of abdominal pain and depression. These signs were reversed with cessation of lead dosing and CaEDTA treatment. Blood lead levels and the number of marrow cells with non-haeme iron increased in both lead-dosed groups; nucleated red blood cells increased only in high lead dosed group. There was a trend for an increased packed cell volume in all groups; however, the high lead dosed group did not increase as fast. No significant changes were observed in blood glutathione concentration and in other haematologic parameters. There were no differences in the parameters studied between the dogs treated with CaEDTA and those not so treated. Blood lead levels and the number of nucleated red blood cells decreased after cessation of lead administration and the number of marrow cells with iron also tended to decrease after lead removal.

Animals↗