1/17. 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) |
2/17. Rabson-Mendenhall syndrome.Rabson-Mendenhall syndrome is characterized by growth retardation, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, premature and dysplastic dentition, coarse facial features, paradoxical fasting hypoglycemia and post-prandial hyperglycemia, extreme hyperinsulinemia and pineal hyperplasia. We describe a six-month-old female child with physical features suggestive of the Rabson-Mendenhall syndrome. The child also had medullary nephrocalcinosis.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/17. Corticosterone methyloxydase deficiency type II in a Croatian girl.This is a brief case report on a four-month-old girl who was admitted for failure to thrive and moderate dehydration. On admission she was mildly dehydrated and undernourished but with otherwise normal physical findings. Laboratory investigation disclosed mild but constant hyponatremia and hyperkalemia, very high plasma renin activity (greater than 900 ng/mL per hour) and low plasma aldosterone concentration (2.5 ng/dL). The plasma 18-hydroxycorticosterone (18-OH-B) was very high (1,682 ng/dL), producing thus an abnormally elevated 18-OH-B to aldosterone ratio of 542 (normally 6.3 /- 3.6). The diagnosis of corticosterone methyloxydase deficiency type II was made, and the administration of fluorohydrocortisone resulted in rapid weight gain with normalization of blood electrolytes and gradual decrease in plasma renin activity. A very efficient catch-up growth resulted in normal body weight and length at the age of 2 years. This is the first well documented case of the disease in the population of yugoslavia.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/17. Persistent cough and failure to thrive: a presentation of foreign body aspiration in a child with asthma.Severe failure to thrive (FTT) in a child with asthma and a persistent cough should not be explained solely by asthma and warrants a thorough and prompt evaluation. The finding of a foreign body in our case was surprising, because it does not usually present as or lead to FTT. Good clinical judgment and habits could prevent the course of events that we described in this case. Following are the key lessons to be learned from this presentation: (1) maintain a high index of suspicion for foreign body aspiration, even in toddlers with asthma, (2) pay special attention to a child with FTT, (3) be aware of localizing findings on physical examination and chest radiographs, and (4) perform a chest radiograph no later than after 1 month of chronic cough.- - - - - - - - - - ranking = 3.9988387030962keywords = physical examination, physical (Clic here for more details about this article) |
5/17. 'failure to thrive' in the elderly: diagnosis and management."failure to thrive" (FTT) is a term used to describe a gradual decline in physical and/or cognitive function of an elderly patient, usually accompanied by weight loss and social withdrawal, that occurs without immediate explanation. Both age-related and sociodemographic factors predispose the elderly to FTT. The most common etiologies are dementia, depression, delirium, drug reactions, and a few chronic diseases. The diagnostic evaluation of patients with FTT includes a review of the patient's activities of daily living, cognitive function, and mood; a targeted history and physical examination; and selected laboratory studies. Early recognition and management of FTT can reduce the risk of further functional deterioration, hospitalization, or nursing home placement.- - - - - - - - - - ranking = 4.9988387030962keywords = physical examination, physical (Clic here for more details about this article) |
6/17. Induction and maintenance of swallowing responses in infants with dysphagia.A treatment package was used to induce and maintain swallowing with three infants who did not swallow food or liquid. Prior to treatment, they received all nutrition and hydration via gastrostomy tube feedings. The treatment package consisted of least-to-most intrusive physical prompts, an eliciting stimulus, contingent social reinforcement, and repeated trials to induce and maintain swallowing. The design combined elements of reversal and changing criterion designs for all three infants. The package was applied across feeding devices (nipple, cup, spoon), situations (liquid, pureed foods), and persons (trainer, primary nurses, mothers). The number of swallows or ounces per feeding (from 0 to 8 ounces) and the number of feeding sessions per day (from one to five) were progressively increased. In each case, the infant received baseline conditions alternated with the treatment package. Follow-up probes were done at 15 months, 21 months, or 24 months, respectively, after the last phase for the three patients. The package was successful in that the gastrostomy tube was no longer needed for patients 1 and 3. Patient 2 maintained functional swallowing responses but received supplemental gastrostomy feedings because of unrelated medical problems. Results are discussed in terms of the need to isolate components of the package. The package can be used in cases in which the preexisting treatments (reinforcement with preferred foods, force-feeding) are not feasible because of age, physical fragility, or the lack of a swallowing response following the presentation of food.- - - - - - - - - - ranking = 2keywords = physical (Clic here for more details about this article) |
7/17. Environmental failure to thrive: the need for intervention.Evaluation of the child with failure to thrive consists of a comprehensive history, a thorough physical examination and appropriate laboratory tests. The behavioral characteristics of the infant and mother, as well as the social characteristics of the family, may point to the diagnosis of environmental failure to thrive. Appropriate management strategies are influenced by the psychosocial assessment. The physician must maintain an advocacy role for the child throughout this time, even if community agencies are providing most of the care.- - - - - - - - - - ranking = 3.9988387030962keywords = physical examination, physical (Clic here for more details about this article) |
8/17. Judicial failure to thrive.The case of a toddler who developed nonorganic failure to thrive during the course of a custody determination is reported. The child demonstrated physical, emotional, and developmental aspects of failure to thrive. These signs correlated with custody ordered by the judge, during which time the child's care was alternated between parents. The symptoms resolved when the child was in the hospital and when provided stable care by his grandmother. With the increasing frequency of divorce, failure to thrive resulting from judicial decisions will probably increase. physicians should monitor these children carefully in order to prevent serious psychosocial complications. The judicial system should expedite custody decisions, availing itself of information in child development.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
9/17. Behavioral assessment and treatment of pediatric feeding disorders.Pediatric feeding disorders are estimated to occur in as many as one in every four infants and children, and when serious can require numerous, costly and sustained interventions. For over a decade research has cumulated evidence on the contributions of Behavior Analysis in understanding and remediating some types of pediatric feeding disorders. The systematic use of this body of evidence in conjunction with other approaches (medical, nutrition, occupational therapy, physical therapy, and so forth) is being carried out on an inpatient treatment unit at the Kennedy Krieger Institute. Key aspects are described here, including direct observation behavior assessment, approaches for increasing and decreasing feeding behavior, skill acquisition, transfer of treatment gains, and parent training. The results based on case studies and overall program evaluation indicate that medically complicated, severe feeding disorders can be treated successfully in a few months with a multidisciplinary approach which incorporates behavioral procedures.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
10/17. Psychiatric presentation of Crohn's disease. Diagnostic delay and increased morbidity.Four children presented to child psychiatric clinics with a variety of symptoms. They were all later recognised as having Crohn's disease. There was a significant delay between the onset of symptoms and diagnosis, compared with a control group of patients with Crohn's disease whose presentation was with predominantly gastrointestinal symptoms, which was associated with evidence of increased morbidity. Children with abdominal and psychiatric symptoms occurring in combination need serial assessments of physical status, including height and weight, and measurements of inflammatory and nutritional status.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
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