伴有LADD综合征的角膜缘干细胞缺乏

泪管-耳-牙-指（趾）（LADD）综合征是一种具有多种表现的常染色体显性遗传疾病。最初在1967年由Levy报道。1例双侧泪液系统缺失、杯状耳、干嘴，以及牙、手臂和指（趾）异常的单发病例。之后一些新发现的临床表现，如肾脏异常、唾液腺缺乏、先天性髋脱位、先天性裂孔疝和横膈疝、感觉性耳聋和传导性耳聋、牙发育不全、四肢异常、口腔干燥和眼干都被报道与此综合征有关。     

Primary hypothyroidism presenting as ovarian tumor and precocious puberty in a prepubertal girl.

We report a case of a prepubertal girl with juvenile primary hypothyroidism presenting as ovarian cysts and precocious puberty. The 7-year-old female was referred to our clinic because of a pelvic/abdominal mass and vaginal bleeding. Besides these findings, on physical examination we noticed the thyroid gland globally increased and the presence of secondary sexual characteristics. Based upon the clinical profile and investigations, the patient was diagnosed with juvenile primary hypothyroidism due to autoimmune thyroiditis. The cysts and precocious puberty resolved spontaneously after the simple replacement of thyroid hormone. It is important to bear in mind hypothyroidism in cases of girls presenting ovarian cysts and precocious puberty in order to avoid unnecessary surgery on the ovaries.     

Intraoperative radiotherapy in stage I and II lung cancer

Lung cancer is the leading cause of cancer deaths in both men and women in the United States. Treatment depends on the type and stage of lung cancer. For stage I and II cancer, surgery is usually the treatment of choice. Radiation therapy is used in patients who are considered poor risks for surgical resection. Intraoperative brachytherapy is an effective alternative to external irradiation in this group of patients. From 1958 to 1984, 55 patients with non-small-cell lung cancer were explored at Memorial Sloan Kettering Cancer Center and found to have surgical stage I or II tumors, which were considered to be unresectable mainly because of severe obstructive pulmonary disease precluding adequate resection. All these patients were treated with intraoperative brachytherapy at the time of the thoracotomy. Forty-four percent of these patients received in addition external irradiation, mainly to the mediastinum. The overall 5-year survival calculated by the Kaplan-Meier Method was 32%, and the local disease-free survival was 63%. Cox regression multivariant analysis demonstrated that there is a distinct subgroup with a better prognosis based on tumor site and patient's age--ie, patients who were younger than 58 years of age and had right-side lesions.     

Tuberculosis of the upper limb joints

Summary Seventy-four cases of tuberculosis of the upper limb joints (sterno-clavicular 1; shoulder 12; elbow 42; wrist 10 and fingers 9), treated by two of the authors, were reviewed. Eighty-seven percent presented at an advanced stage of destruction. The diagnosis was proved in 71 out of 74 cases. In most, the treatment was 6–12 months of chemotherapy, plaster immobilization (in order to prevent or correct deformity) and functional rehabilitation whenever possible. The sterno-clavicular and finger joints were not immobilized. Response to chemotherapy was favourable in 66 of the patients followed up. One relapse occurred at the 18th month.The affected shoulder joints healed with loss of movement, but were not painful. At the elbow, ten patients developed spontaneous bony fusion in the right-angle position, 27 had a useful range of motion and 19 had more than 70° of flexion-extension movement. One patient had an arthrodesis. At the wrist, two patients healed with painful stiffness and an arthrodesis was performed. All the finger lesions healed with painless stiffness which did not interfere much with function because rehabilitation had been started early. The authors believe that conservative management usually gives better results than arthrodesis or excision of the joint.

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Résumé Les auteurs rapportent les résultats de leur expérience dans 74 cas d'ostéo-arthrite tuberculeuse du membre supérieur: 1 sterno-claviculaire, 12 scapulo-humérales, 42 coudes, 10 poignets et 9 articulations des doigts, toutes traitées personnellement par les deux auteurs principaux. Sur le plan diagnostique, 87% des patients se présentaient à un stade de destruction avancée. Le diagnostic de certitude fut obtenu dans 71 cas sur 74. Dans la majorité des cas, le traitement a été standardisé: chimiothérapie de 6 à 12 mois, immobilisation plâtrée pour prévenir ou corriger les déformations, suivie de reéducation chaque fois que possible. Les lésions de la sterno-claviculaire et des doigts ne furent pas immobilisées. Les résultats ont été bons en ce qui concerne la chimiothérapie: 66 réponses favorables chez 66 patients suivis. Il y a eu une rechute au 18éme mois. Du point de vue orthopédique, les lésions scapulo-humérales ont guéri avec une raideur de l'épaule toujours importante mais indolore. Au niveau du coude, 10 patients évoluèrent vers la fusion osseuse précoce spontanée, qui se fit à 90° de flexion grâce à l'immobilisation plâtrée; 27 guérirent avec une conservation variable des mouvements du coude dans un secteur fonctionnel et 19 d'entre eux présentaient plus de 70° d'étendue de flexion; 1 patient fut arthrodésé. Au niveau du poignet, 2 patients guérirent avec une raideur douloureuse qui nécessita une arthrodèse. Les lésions des doigts guérirent avec une raideur plus ou moins marquée, bien compensée par la mobilité des autres articulations, conservée intacte par la reéducation. Les auteurs concluent à la meilleure qualité des résultats du traitement conservateur que des classiques interventions d'arthrodèse ou de résection articulaire.

     

Adequacies of skin puncture for evaluating biochemical and hematological blood parameters in athletes.

OBJECTIVE: The authors tested the effect of blood sampling (skin versus venous puncture) on some biochemical and hematological blood parameters in athletes to answer whether skin puncture could be used as a substitute for venous puncture. DESIGN: Comparative study of 2 methods of blood samples collection. SETTING: The blood was collected in the same athletes at 3 different moments of the preparatory training phase. PARTICIPANTS: Fourteen male indoor soccer players (22 +/- 1 years old) and 7 female handball players (18 +/- 1 years old) participated. MAIN OUTCOME MEASUREMENT: Blood was collected in heparin and K3EDTA by Vacutainer BD or Microvette Sarstedt system for biochemical and hematological analyses, respectively. RESULTS: There were no significant statistical differences between the 2 methods for the values of creatine kinase, urea, creatinine, lymphocytes, and platelets. The other hematological analyzes and uric acid exhibited significant higher values in skin blood, although they were all within the normal expected range. A high degree of correlation was observed between the 2 techniques for all parameters. CONCLUSIONS: Skin puncture is a reliable, easy, accurate, and less invasive sampling method for assessing hematological and some biochemical parameters in athletes, respecting that blood samples should always be obtained from the same site, especially in follow-up studies.     

Association between the HOXA1 A218G polymorphism and increased head circumference in patients with autism.

BACKGROUND: The HOXA1 gene plays a major role in brainstem and cranial morphogenesis. The G allele of the HOXA1 A218G polymorphism has been previously found associated with autism. METHODS: We performed case-control and family-based association analyses, contrasting 127 autistic patients with 174 ethnically matched controls, and assessing for allelic transmission disequilibrium in 189 complete trios. RESULTS: A, and not G, alleles were associated with autism using both case-control (chi(2) = 8.96 and 5.71, 1 df, p <.005 and <.025 for genotypes and alleles, respectively), and family-based (transmission/disequilibrium test chi(2) = 8.80, 1 df, p <.005) association analyses. The head circumference of 31 patients carrying one or two copies of the G allele displayed significantly larger median values (95.0th vs. 82.5th percentile, p <.05) and dramatically reduced interindividual variability (p <.0001), compared with 166 patients carrying the A/A genotype. CONCLUSIONS: The HOXA1 A218G polymorphism explains approximately 5% of the variance in the head circumference of autistic patients and represents to our knowledge the first known gene variant providing sizable contributions to cranial morphology. The disease specificity of this finding is currently being investigated. Nonreplications in genetic linkage/association studies could partly stem from the dyshomogeneous distribution of an endophenotype morphologically defined by cranial circumference.     

Simian virus 40 in humans

Simian virus 40 (SV40) is a monkey virus that was administered to human populations by contaminated vaccines which were produced in SV40 naturally infected monkey cells.     

Coupling of lactose molecules to the carrier protein hinders the spleen and bone marrow uptake of doxorubicin conjugated with human albumin.

Several attempts have been made to enhance doxorubicin (DOXO) concentrations in tumour cells by drug conjugation with human albumin (HSA). HSA-DOXO has the drawback of causing DOXO accumulation in spleen and bone marrow, with a consequent leucopoenia not produced when lactose molecules are coupled to the carrier protein. In the present experiments we demonstrated that the effect of HSA lactosamination is not a consequence of a more rapid disappearance from the bloodstream of the lactosaminated conjugate (L-HSA-DOXO), which is rapidly internalized by the liver through the asialoglycoprotein receptor, but is due to a hindered uptake by spleen and bone marrow cells caused by the coupled lactose molecules. Experiments in vitro showed that HSA-DOXO produced an inhibition of murine macrophage proliferation not caused by L-HSA-DOXO. This result can be explained by higher amounts of the former conjugate entering in these cells and suggests macrophages as the cell type responsible for the spleen and bone marrow internalization of HSA-DOXO hindered by lactose coupling. Importantly, lactosamination of HSA did not reduce the marked uptake of HSA-DOXO by chemically induced rat hepatocellular carcinoma. L-HSA-DOXO, by avoiding DOXO accumulation in bone marrow is an attractive candidate for clinical trials against tumors which were found to actively internalize this conjugate in laboratory animals, such as hepatocellular carcinoma.