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Albright’s hereditary osteodystrophy is a rare inherited metabolic disorder characterized by a typical phenotype. It may be
associated with or without resistance to parathyroid hormone (pseudohypoparathyroidism). Both forms may co-exist in the same
family. Pseudohypoparathyroidism Type 1 and Pseudo-pseudohypoparathyroidism occur as a consequence of reduced erythrocyte
membrane coupled with Gs alpha activity. We report here the variable inheritance of hormone resistance in the presence of
characteristic phenotype and reduced Gs alpha activity in the same family. 相似文献
994.
Yasmeen J Bhat Sheikh Manzoor Seema Qayoom Roohi Wani Asif Nazir Baba Arshad Hussian Bhat 《Indian journal of dermatology》2009,54(4):334-337
Background:
Reactive perforating collagenosis (RPC) is one of the rare forms of transepidermal elimination in which genetically altered collagen is extruded from the epidermis. This disease usually starts in early childhood as asymptomatic umbilicated papules on extremities, and the lesions become more conspicuous with age.Aims:
The objective of our study was to determine the clinico-pathological features of RPC and the response to various treatment modalities.Methods:
Ten patients of RPC, belonging to five different families, were studied clinically. Various laboratory investigations were carried out and diagnosis was made by histopathology of the lesions. Patients were given various topical and oral treatments.Results:
RPC is familial in most cases without any definite inheritance pattern. It begins in childhood and the lesions are usually recurrent and become profuse and large with age. Systemic diseases have no role in the onset of lesions.Conclusion:
Oral and topical retinoids in combination with emollients is the best treatment option. 相似文献995.
The present study describes a 9-month-old infant who presented with congenital lumbar hernia, kyphoscoliosis, atrial septal
defect, congenital talipes equinovarus and arthrogryposis. To the best of our knowledge, this is the first case in English
literature with this combination of defects. The case could be considered an incomplete form of the lumbocostovertebral syndrome.
We also discuss the etiopathogenesis of these malformations. 相似文献
996.
Dr Seema Singhal Jayesh Mehta 《BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy》2001,15(3):163-172
In addition to immunomodulatory and cytokine-modulatory properties, thalidomide has antiangiogenic activity. It has been investigated in a number of cancers including multiple myeloma, myelodysplastic syndromes, gliomas, Kaposi’s sarcoma, renal cell carcinoma, advanced breast cancer, and colon cancer. Its role has been best explored in myeloma, where, at daily doses of 100 to 800mg, it is remarkably active, causing clinically meaningful responses in one-third of extensively pretreated patients and in over half of patients treated early in the course of the disease. It also acts synergistically with corticosteroids and chemotherapy in myeloma. Thalidomide produces improvement of cytopenias characteristic of myelodysplastic syndrome, resulting in the reduction or elimination of transfusion dependence in some patients. Responses have also been seen in one-third of patients with Kaposi’s sarcoma, in a small proportion of patients with renal cell carcinoma and high grade glioma and, in combination with irinotecan, in some patients with colon cancer. Thalidomide is being investigated currently in a number of clinical trials for cancer. Drowsiness, constipation and fatigue are common adverse effects seen in 75% of patients. Symptoms of peripheral neuropathy and skin rash are seen in 30%. A minority of patients experience bradycardia and thrombotic phenomena. Despite the high frequency of adverse effects, those severe enough to necessitate cessation of therapy are seen in only 10 to 15% of patients. A therapeutic trial of thalidomide should be considered in all patients with myeloma who are unresponsive to or relapse after standard therapy. In other malignant diseases, the most appropriate way to use the drug is in the setting of well designed clinical trials. In the absence of access to such studies, thalidomide could be considered singly or in combination with standard therapy in patients with no meaningful therapeutic options. 相似文献
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Seema T. Methre Ravibhushan R. Godbole Priyanka S. Nayar Rumma V. Manchanda 《Indian journal of hematology & blood transfusion》2012,28(1):50-53
An 8-year-old male child, diagnosed case of congenital ichthyosis presented with abdominal distension, hepatomegaly and pancytopenia.
His peripheral blood and bone marrow showed clear punched out intracytoplasmic vacuolations in leucocytes (Jordans’ anomaly).
He had convergent strabismus, ectropion, blepharitis and genu valgum. He was diagnosed as a case of Dorfman–Chanarin syndrome. 相似文献
1000.
Chad Swank Seema Sikka Simon Driver Monica Bennett Librada Callender 《Disability and rehabilitation. Assistive technology》2020,15(4):409-417
AbstractObjective: Learning to walk is a major goal of inpatient rehabilitation and robotic exoskeletons may provide a new gait training approach. Our purpose was to determine the feasibility of integrating the Ekso Gait Training device into inpatient rehabilitation in a neurologic population.Design: Longitudinal cohort design and convenience sample including physical therapists trained to use the Ekso Bionics Ekso GT? robotic exoskeleton or inpatients with stroke or SCI. Therapists completed a focus group and survey at baseline and 6 months after initial Ekso training. Patients completed a survey indicating their satisfaction with using the Ekso.Results: Twenty-five patients used the Ekso an average of 4.5 sessions during their 38.5-day rehabilitation stay. Survey and focus group feedback revealed that therapists encountered measurement difficulties with the Ekso and limited treatment time influencing effectiveness of usage. After 6 months, therapists reported an improvement in feasibility. Patients tolerated Ekso sessions well, without any complications or adverse incidents, and reported improved mobility post session.Conclusion: Integrating Ekso gait training into clinical practice was not seamless but appears feasible. Barriers were addressed within the rehabilitation team and received administrative support in a process lasting several months. Patients enjoyed walking in Ekso and felt secure within the device.
- Implications for rehabilitation
Integrating Ekso gait training into clinical practice during inpatient rehabilitation is feasible.
Overcoming barriers to implementation required administrative support and clinician persistence over several months.
Patients tolerated Ekso sessions well, without any complications or adverse incidents.