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101.
Pc Ng Ch Lee KF To TF Fok KW So W Wong & KL Cheung 《Journal of paediatrics and child health》1999,35(3):306-308
A severe case of aplasia cutis congenita in a preterm infant is described. Although major problems with thermoregulation and fluid balance were anticipated, these parameters were relatively easy to control once the patient was stabilized. Meticulous skin care and rapid formation of a membranous-like fibrous tissue layer covering the denuded areas probably played an important role in minimizing excessive fluid and heat loss. The prognosis in aplasia cutis congenita is determined by the underlying associated anomalies, the severity of skin lesions and, in our case, the maturity of the infant who died from complications of prematurity. 相似文献
102.
103.
Rationale:Monoclonal gammopathy of undetermined significance (MGUS) is a clinically asymptomatic clonal plasma cell or lymphoplasmacytic proliferative disorder. Recently, some case reports have described the association of pure red cell aplasia (PRCA) with MGUS, even with a relatively low monoclonal immunoglobulin burden. T large granular lymphocyte leukemia (T-LGLL) is a chronic lymphoproliferative disorder characterized by clonal expansion of T large granular lymphocytes, which is rare in China. There are some reports about T-LGL leukemia in patients with B-cell lymphoma; however, it is very rare that T-LGLL coexists with MGUS and clonal B-cell lymphoproliferative disorders (CB-LPD).Patient concerns:A 77-year-old man was hospitalized because of anemia. He was diagnosed with MGUS, CB-LPD, and PRCA. During the development of the disease, a group of abnormal T lymphocytes was detected by flow cytometry of peripheral blood.Diagnosis:Combining clinical manifestations with the result of T cell receptor gene rearrangement and immunophenotype, it was consistent with the diagnosis of T large granular lymphocyte leukemia.Interventions:The patient was treat with bortezomib and dexamethasone regimen, Rituximab and sirolimus.Outcomes:The patient was transfusion independent after therapies.Lessons:We report a patient with 4 concomitant hematological disorders: T-LGLL, MGUS, CB-LPD, and PRCA, aiming to represent the clinical and flow cytometry characteristics of these concomitant diseases, analyze the mechanism between diseases, and provide a clinical reference. 相似文献
104.
Giovanni Sorge Lorenzo Pavone Agata Polizzi Laura Mauceri Rosalia Maria Leonardi Teresa Tripi John M. Opitz 《American journal of medical genetics. Part A》1997,69(4):388-394
We describe another previously apparently unreported form of acrofacial dysostosis (AFD) from Sicily, residing, coincidentally in the same small village as that with the recently delineated Catania AFD. In contradistinction to the latter, the 4 patients with the Palagonia form of AFD are of normal intelligence, and instead of extensive caries have oligodontia (4), short stature (3), frizzy hair (pili torti) with aplasia cutis verticis (1), mild cutaneous syndactyly of digite 2–5 (4), attenuation of the 4th metacarpals (3/3), unilaterally cleft lip (1), and some vertebral anomalies such as a large atlas (1), mild scoliosis (1), small odontoid process, spina bifida occulta at S1 (1). Causally, this would appear to be an iceberg dominant disorder, with the proposita most severely affected. This could be an X-linked dominant, but more likely an autosomal dominant trait. Am. J. Med. Genet. 69:388–394, 1997. © 1997 Wiley-Liss, Inc. 相似文献
105.
Sanjay Vaid Darshan Shah Sudarshan Rawat Rahul Shukla 《Journal of pediatric surgery》2010,45(2):453-456
Proboscis lateralis is a rare craniofacial malformation characterized by absence of nasal cavity on one side with a trunk-like nasal appendage protruding from superomedial portion of the ipsilateral orbit. High-resolution computed tomography and magnetic resonance imaging are extremely useful in evaluating this congenital condition and the wide spectrum of associated anomalies occurring in the surrounding anatomical regions and brain. We present a case of proboscis lateralis in a 2-year-old girl with associated ipsilateral sinonasal aplasia, orbital cyst, absent olfactory bulb and olfactory tract. Absence of ipsilateral olfactory pathway in this rare disorder has been documented on high-resolution computed tomography and magnetic resonance imaging by us for the first time in English medical literature. 相似文献
106.
Purpose
Follow-up of vascular changes in a patient with congenital retinocephalofacial vascular malformation syndrome.Methods
MRI and cerebral angiography.Results
In a 36-year-old man, magnetic resonance im aging of the skull and cerebral angiography revealed left intracranial arteriovenous malformations. Follow-up observation of 27 years revealed no essential change of retinal and cerebral arteriovenous malformations. Additional congenital deficits in this patient were described.Conclusion
Patients with retinal arteriovenous malformations should be early examined with neuroradiological methods. 相似文献107.
108.
《Acta oto-laryngologica》2012,132(4):353-357
Objective To investigate the auditory rehabilitative results achieved in five patients with cochlear implants (CIs) who subsequently received, due to poor results, auditory brainstem implants (ABIs). Material and Methods Between April 1997 and March 2003, 37 patients (age range 14 months to 70 years) were fitted with ABIs in our ENT Department. Fourteen subjects had neurofibromatosis type 2 and 23 were non-tumor patients who had cochlea or cochlear nerve disease. Five subjects had previously been treated with a CI and received an ABI owing to the poor results achieved. One child had bilateral undiagnosed cochlear nerve aplasia and one was suffering from auditory neuropathy; three adults had total cochlear ossification. Results The open-set sentence recognition score (auditory-only mode) 6–8 months after ABI activation ranged from 0% to 100% in adults. In 1 subject the speech-tracking score was 56 words/min with the ABI. The two children who had achieved no hearing ability with their CI were able to detect sounds and words as early as 3 months after activation of the ABI. Conclusion CI failure as a result of anatomical abnormalities can be remedied by an ABI. 相似文献
109.
Anemia is a well‐described comorbidity in patients with heart failure and has been associated with decreased survival rates after heart transplant. The causes of anemia are broad, and identification of the underlying etiology is critical for management. Herein, we report an unusual case of severe anemia complicating cardiac transplantation. 相似文献
110.
Ectodermal dysplasias (EDs) are a group of developmental disorders (more than 100) mainly affecting ectodermal tissues and organs. The X-linked hypohidrotic ED (HED) is the most common form of EDs, involving defects in teeth, sweat glands, and hair. In a few reports, HED has been associated with reduced salivary function. In the present case report, a dramatically reduced salivary fluid and acidic proline rich protein production was identified in a 38-year-old man with HED. Computed tomography was performed, revealing that one submandibular gland and both parotid glands were hypoplastic, whereas the right submandibular gland seemed to be absent. These findings are in line with a general developmental disturbance also involving the salivary glands. As salivary tests are inexpensive and easy to perform, it is suggested to routinely evaluate salivary secretion in persons with HED, to prevent a possible negative impact on oral health. 相似文献