1/6. Case of partial trisomy 2q3 with clinical manifestations of Marshall-Smith syndrome.We describe a girl with physical anomalies, accelerated skeletal maturation, failure to thrive, and respiratory difficulties consistent with a diagnosis of Marshall-Smith syndrome (MSS). Chromosome analysis showed an inverted duplication of chromosome 2 [46,XX,inv dup(2)(q37q32) de novo] identified by G banding and confirmed by FISH. Several cases of trisomy 2q3 have been reported and established a syndrome, but the present case is the first to be associated with accelerated skeletal maturation and a clinical picture resembling MSS. This raises the possibility that the cause of MSS involves the q3 region of chromosome 2. Few reports of MSS include study of the karyotype, although the chromosomes were apparently normal in those cases where they have been examined. We suggest that karyotyping be undertaken with particular attention to the 2q3 region in patients with suspected MSS. It also would be prudent to assess bone age in all children with trisomy 2q.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/6. Evaluating and monitoring the adolescent with pulmonary function testing.This article reviews pulmonary function tests (quantitative measurements of physiologic functioning of lungs, chest wall, and respiratory muscles) as valuable tools for the diagnosis and management of chronic respiratory disease in adolescents. Advances in technology have made pulmonary function testing more available and, for some tests, easier to perform. Pulmonary function evaluation is used for diagnosis of pulmonary disease. Testing will identify abnormal physiologic processes that result in obstructive or restrictive pulmonary disease and, together with a complete history, physical examination, and other tests, help to determine the specific etiology. Pulmonary function measurement may be used to manage a patientis disease over time. Quantitative evaluation of the response to many specific therapies, such as asthma medications and environmental control, can only be achieved by measuring pulmonary function. Monitoring pulmonary toxicity of medications, such as chemotherapeutic agents, is also done by measuring pulmonary function. In many patients with chronic pulmonary disease, such as cystic fibrosis, the pulmonary function laboratory can be used to assess the patient's physiologic limitation.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/6. Physical assessment series: the thorax and the lungs.The anatomy of the thorax and lungs and the physiology or respiration are complex. The physical assessment techniques which, on the surface, appear relatively easy to master, require hours of practice of observation, palpation, percussion, and auscultation before the examiner becomes familiar with the more subtle changes of disease process and the wide variations of normal that may be confused with illness. These are skills that may be quickly lost if not regularly applied. But perhaps with the use of such techniques, the pharmacist can play an even greater role in the monitoring of drug therapy.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/6. ascariasis--its complications, unusual presentations and surgical approaches.Serious complications of ascariasis are varied and occur at all stages of worm development. The acute condition within the abdomen heralds the presence of intestinal, pancreatic, or biliary tract obstruction secondary to the physical presence of the adult parasites. Larvae may be responsible for acute respiratory disease, either as a direct allergic phenomenon or as a pneumonic infiltrative process secondary to fellow traveler bacteria. Deposition of ova in the liver allows for intrahepatic and pericholangitic abscesses with resultant parenchymal destruction and scarring. Though primary therapy is medical, specific indications for surgical intervention are discussed. These unusual but life-threatening sequelae are typified in the case presentation of a critically ill child.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
5/6. Diaphragmatic flutter emulating recalcitrant asthma.Diaphragmatic flutter is a rare phenomenon characterized by high-frequency, pulsatile contractions of the thorax and abdominal wall associated with breathlessness. We describe the case of a patient previously treated for status asthmaticus who had physical signs of diaphragmatic flutter. Respiratory inductive plethysmography confirmed the diagnosis, simplifying medical management.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
6/6. spinal cord injury rehabilitation. 2. Medical complications.This self-directed learning module highlights new advances in understanding medical complications of spinal cord injury through the lifespan. It is part of the chapter on spinal cord injury rehabilitation in the Self-Directed Physiatric education Program for practitioners and trainees in physical medicine and rehabilitation. This article covers reasons for transferring patients to specialized spinal cord injury centers once they have been stabilized, and the management of common medical problems, including fever, autonomic dysreflexia, urinary tract infection, acute and chronic abdominal complications, deep vein thrombosis, pulmonary complications, and heterotopic ossification. Formulation of an educational program for prevention of late complications is also discussed, including late renal complications, syringomyelia, myelomalacia, burns, pathologic fractures, pressure ulcers, and cardiovascular disease. New advances covered in this section include new information on old problems, and a discussion of exercise tolerance in persons with tetraplegia, the pathophysiology of late neurologic deterioration after spinal cord injury, and a view of the care of these patients across the lifespan.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |