Diagnosis of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes in a Chinese family by PCR/restriction enzyme analysis

The clinical presentation and the biochemical and molecular genetic findings are described in a 13 year old Chinese boy with MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes). The diagnosis was initially suspected because of the characteristic clinical features and the strong family history of convulsions. Using polymerase chain reaction—restriction enzyme analysis, the heteroplasmic nt3243 A→G mutation in mtDNA of peripheral blood leucocytes and a muscle sample was demonstrated. The oligosymptomatic relatives were then screened by this method and the degree of heteroplasmy was analysed. This appears to be the first report of a MELAS family in Hong Kong with this described mutation. Molecular genetic techniques are advantageous in the diagnosis of MELAS.     

新生儿骨矿质含量及影响因素的研究

应用双光子及单光子吸收测定技术，检测了９２名出生３ｄ内的新生儿骨矿质含量，其中巨大儿３０名，正常体重儿３２名，低出生体重儿３０名，其孕龄分别是４０．１±０．７、３９．１±１．５和３７．４±１．２孕周。结果表明，巨大儿、正常体重儿、低出生体重儿的全身骨矿质含量分别是１０１．６±２８．８、８５．２±１９．８、５９．９±２７．２ｇ／ｃｍ２，巨大儿骨矿质含量最高，正常体重儿次之，低出生体重儿最低，差异有显著性（Ｐ＜０．０１）。颅骨、肱骨、股骨的骨矿质含量与全身的骨矿质含量有高度的相关性，相关系数分别是０．９４３、０．８７９和０．７４５（Ｐ＜０．０１）。全身的骨矿质含量与出生体重、孕龄及头围有高度相关性，相关系数分别是０．７５５、０．５９６和０．５５６（Ｐ＜０．０１）。提示颅骨、肱骨及股骨的任一部位均可代表全身的骨矿质含量，肱骨是确定全身骨矿质含量较好的部位，新生儿骨矿质含量受出生体重、孕龄及头围的影响较大。     

Immunopathologic study of Vogt-Koyanagi-Harada syndrome

We studied an enucleated eye from a patient with a 30-year history of Vogt-Koyanagi-Harada syndrome using both conventional and immunohistochemical techniques. Clinically, the eye was in the end stage of Vogt-Koyanagi-Harada syndrome, and was characterized by the absence of inflammation, large areas of chorioretinal scarring, and pigmentary changes. Histopathologic examination showed marked retinal gliosis, extensive chorioretinal adhesion and scar formation, migration of pigment into the retina, and severe retinal pigment epithelial changes. However, foci of mild to moderate nongranulomatous inflammation of the uvea were observed. These foci contained infiltrating cells that were mainly T lymphocytes with B lymphocyte aggregates at the center. Scattered macrophages were also noted in the uvea and retina. These findings suggest that both the cell-mediated and humoral immune arms may play roles in the pathogenesis of Vogt-Koyanagi-Harada syndrome.     

Do patients receive adequate pain control after discharge from the ED?

Studies on the effectiveness of pain management have uniformly concluded that health care providers underestimate or undertreat pain. In the emergency department (ED) in which this study was conducted, physicians receive formal didactic and bedside teaching on pain recognition and management in order to heighten the awareness of patient's need for pain control. The purpose of this study was to determine if this outpatient pain management of patients with acute, painful conditions is better than that reported in the medical literature. In this prospective study, 110 adult patients who had an acute, painful diagnosis were telephoned 48 hours after discharge from the ED and asked if they felt their pain at home was well controlled. Patient satisfaction with pain control was higher (91%) than that reported in the medical literature. Also, pain medication was provided more frequently by this study's ED (95%). Education on pain awareness and treatment is a way to improve pain management.     

Quantitative MRI volume changes in late onset schizophrenia and Alzheimer''s disease compared to normal controls

Volumes of medial and lateral temporal lobe structures were assessed using magnetic resonance imaging (MRI) in 11 patients with late-life onset schizophrenia (LOS), 18 normal elderly controls and 12 patients with moderate cognitive impairment due to Alzheimer's disease (AD) who had no non-cognitive symptoms. While both patient groups has smaller volumes of several medial temporal regions (e.g. entorhinal cortex, left hippocampus), schizophrenics had significantly smaller anterior superior temporal gyri (STG) than normal controls, but AD patients did not. We have previously demonstrated anterior STG volume to be reduced in early life onset schizophrenia.     

Localization of IGF-I and IGF-I Receptor mRNA inSparus aurataLarvae

Studies of the ontogeny of IGF-I mRNA during embryonic and larval development of the gilthead sea breamSparus auratashowed its expression during these early developmental stages. The present study appliesin situhybridization to localize IGF-I and IGF receptor mRNAs in 16-day larvae ofS. aurata.Paraffin sections were hybridized with homologous RNA probes labeled by [³⁵S]UTP. IGF-I mRNA expression was found mainly in chondrocytes, in both the gill arches and cranial cartilage, in skeletal muscle, in the brain, in the pancreas, in the retina, and in the epithelial cells surrounding the lens. A strong positive reaction for IGF receptor mRNA was found in skeletal muscle, in the pancreas, and in the lymphoid tissue found in the intertubular tissue of the kidney. Signals were less intense in brain and chondrocytes. It is suggested that in teleosts, as in higher vertebrates, IGF-I may be involved in the regulation of tissue growth and differentiation in an autocrine/paracrine manner.     

Sarcoidosis presenting with prolonged fever in a patient with sickle cell anemia.

Although the leading causes of fever and pulmonary infiltrates in sickle cell patients are acute bacterial pneumonia and the acute chest syndrome, the former is usually responsive to antibiotics and not protracted, and the clinical course of the latter is short and self-limited. A patient with sickle cell anemia presented with fever and pulmonary infiltrates of several weeks duration that were unresponsive to antibiotics. Gross endobronchial abnormalities were noted on bronchoscopy, and the biopsies were consistent with sarcoidosis. The diagnosis of sarcoidosis can be difficult to establish in a patient with sickle cell anemia and protracted fever since both disorders are associated with chronic interstitial changes on the chest radiograph as well as restrictive physiology.     

Heat probe thermocoagulation as a substitute for surgical intervention to arrest massive peptic ulcer hemorrhage: an experience in 153 cases

In a period of 2 years 7 months, we performed heat probe (HP) thermocoagulation in 153 cases of massive peptic ulcer hemorrhage. The male/female sex ratio was 125/28. The average age was 57.6 +/- 1.3 years (mean +/- SEM; range, 17 to 88). There were 69 cases (45.1%) of spurting hemorrhage, 50 cases (32.7%) of oozing hemorrhage, and 34 cases (22.2%) of nonbleeding visible vessels. Seventy-seven patients (50.3%) were in shock before therapy. After therapy we obtained initial success in 147 cases (96.1%). Rebleeding episodes occurred in 23 patients (15.6%) within 1 month after therapy. Nineteen patients received a second therapy, and treatment in 15 of these cases (78.9%) was ultimately successful. Finally, treatment in 142 cases (92.8%) was ultimately successful. The duration of hospitalization was 6.3 +/- 0.4 days (mean +/- SEM). After discharge all patients were followed at the outpatient department for at least 1 month. Sixty-seven patients were followed endoscopically for at least 2 to 3 months after therapy. Fifty-six patients (83.6%) had a healed scar at the previous bleeding site 2 months after therapy, and 62 patients (92.5%) had a healed scar 3 months after therapy. We conclude that HP thermocoagulation is an ideal and reliable modality of therapeutic endoscopy in arrest of massive peptic ulcer hemorrhage. HP thermocoagulation may become the first choice of therapy for massive peptic ulcer bleeding in the near future.     

Laparoscopic appendicectomy — A successful operation in adults and children

Laparoscopic appendicectomy has been the subject of several encouraging reports, but has not as yet gained widespread acceptance. We present a series of 159 consecutive laparoscopic appendicectomies performed, over a 4 yr period, in both adults and children. We find the procedure as safe as its open counterpart, with patients fit to leave hospital within the same time period. Perforated appendices were amenable to this procedure, and the location of the appendix did not alter the outcome. Children responded as well as adults post-operatively. Obesity may be an indication for this form of treatment. Removal of displaced faecoliths associated with perforated appendicitis is a difficult technical problem in less than 5 per cent of patients.