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J Malin

Publications and source records attributed to J Malin.

14 recordsLinked to original sources

Demography, symptomatology, and course of disease in ambulatory zoster patients. A physician-based survey in Germany.

This survey summarises the observations of physicians who prospectively recorded clinically relevant data on their patients with an episode of herpes zoster. These included demography of patients, signs and symptoms during the prodromal phase, relevant history, description of disease at the first visit, therapeutic measures and description of disease, and occurrence of postherpetic neuralgia (pain 4-5 weeks after crusting) at the second visit. A total of 2,063 patients were reported to the data management centre. The age distribution resembles that reported in the literature including the notable increase in zoster frequency with advancing age. Almost 20% of the patients, however, were 30 years old or less, and this contrasts markedly with the published literature. Age modifies the frequency of the dermatome afflicted: more cranial and less thoracic manifestations were observed with increasing age. Almost all patients reported symptoms which may be attributed to a prodromal phase, especially pain in the affected dermatome (82%). The incidence of postherpetic neuralgia was 28%. A complicated disease course such as visceral, ocular, or otological involvement, or progression to additional dermatomes was seen in almost 10% of the patients.

Adolescent↗

Hydrolethalus (Salonen-Herva-Norio) syndrome: further clinicopathological delineation.

Two brothers with severe CNS abnormalities, cleft lip/palate, polydactyly, and lung hypoplasia are reported as examples of the hydrolethalus syndrome, an autosomal recessive disorder. Death from cardiopulmonary arrest occurred in patient 1 at age 4 months and in patient 2 at age 17 days. Detailed radiological and neuropathological description is provided on patient 2. We recommend realtime ultrasonography and, when indicated, fetoscopy for antenatal detection of the craniofacial and limb malformations associated with this syndrome.

Abnormalities, Multiple↗

Herrmann-Opitz syndrome: report of an affected fetus.

In 1969, Herrmann and Opitz described a syndrome of acrocephaly, oligosyndactyly, hypertelorism, and mental retardation. We report on a second case, a fetus with cleft palate, urethral astresia, oligohydramnios, and intrauterine death.

Abnormalities, Multiple↗

Pseudomosaicism for trisomy 13. Three case reports.

Pseudomosaicism is of particular concern in prenatal diagnosis when it involves mosaicism for a cytogenetic abnormality associated with a clinical syndrome which is compatible with postnatal life, such as trisomies for chromosomes 13, 18, and 21. The lack of data regarding the outcome of pregnancies involving these specific kinds of pseudomosaicism makes genetic counselling difficult. Three cases of prenatal diagnosis of pseudomosaicism for trisomy 13, each of which had a normal outcome, will be presented (Tables 1 and 2). The three main areas for consideration are: (1) the genetic counselling issues, (2) the additional prenatal diagnostic options available to evaluate the status of the fetus in an attempt to identify some of the clinical features of trisomy 13, and (3) the outcome of the pregnancies.

Chromosomes, Human, Pair 13↗

Prenatal diagnosis of sickle hemoglobinopathies: the experience of the Columbia University Comprehensive Center for Sickle Cell Disease.

We report here an evaluation of 55 pregnancies at risk for a sickle hemoglobinopathy prenatally diagnosed by restriction-endonuclease analysis, with the endonucleases MstII and HpaI, of amniocyte DNA. The diagnosis was completed in all cases. Eleven fetuses were predicted to be affected, of which six were terminated. Forty-one of the 55 cases were confirmed. One false-negative was reported in a case predicted to be hemoglobin AS but that was determined to be hemoglobin SS at birth. We estimate that the 55 cases represent only 5% of the pregnancies at risk for a sickle hemoglobinopathy in the New York metropolitan area during the study period. We conclude that the prenatal diagnosis of sickle hemoglobinopathies by molecular methods is reliable. However, the efficiency of utilization and effectiveness of prenatal testing is dependent on the early prospective identification of couples at risk and on the education of communities concerning the significant morbidity of the sickle hemoglobinopathies and the reproductive choices now available to them.

Anemia, Sickle Cell↗

Malignant histiocytosis X. Report of a rapidly fatal case in an elderly man.

A 71-year-old white man developed an increasing number of 1-to-10 mm, erythematous nodules, many with central ulceration, most prominent on the head and trunk. Biopsy of a nodule showed infiltration of the dermis and epidermis by large cells with multilobulated nuclei and numerous mitoses. Electron microscopy showed that most tumor cells contained Langerhans' cell granules. Immunohistochemical studies demonstrated a pattern of antigen expression similar to that of Langerhans' cells including Ia and Leu-6 (T6) antigens. Chest x-ray showed diffuse pulmonary infiltration and similar tumor cells were present in the sputum and urine. He developed increasing dyspnea and jaundice despite chemotherapy, and died 6 months after the onset of the disease. Autopsy showed massive tumor infiltration of the lungs, liver, spleen, and lymph nodes, and focal involvement of the myocardium, skin and bladder. Clinical and cytologic features indicated this case to be a rare example of highly malignant histiocytosis X in an elderly man.

Aged↗

Genetic counseling before prenatal diagnosis for advanced maternal age: an important medical safeguard.

Genetic counseling before amniocentesis has been advocated by many geneticists with little evidence to support their contention. Records of patients referred exclusively for advanced maternal age were evaluated for additional diagnostic information obtained from the genetic counseling process that could place these patients at additional risks for previously unsuspected fetal abnormalities. A significant number of patients (43.3%) were at additional risk or had significant concerns regarding one or more hereditary or congenital disorders requiring extensive genetic counseling. The results of the present study provide a scientific basis for the consideration of genetic counseling as a standard part of all prenatal diagnostic procedures.

Adult↗

Sarcoidosis: a clinical, roentagenographic and pathological survey.

The records of 107 patients with sarcoidosis were reviewed for clinical presentation, roentgenographic findings and pathological features. Tissue confirmation was obtained in all patients, with transbronchial lung biopsy and minor salivary gland biopsy specimens providing useful procedures for random biopsy when peripheral lymph node or skin lesions were not present. Clinical and laboratory correlations are necessary to exclude other causes of granulomatous disease that may have the same pathological features as sarcoidosis.

Adult↗

[Therapy of sarcoidosis with old tuberculin, blood and BCG. Break in treatment during pregnancy (author's transl)].

In a patient suffering from sarcoidosis stage II the treatment with Old Tuberculin, blood and BCG led to immediate but incomplete remission. With the withdrawal of therapy for safety reasons during pregnancy, a relapse in stage II was observed after delivery. Chest roentgenogramms deteriorated under observation. Thus, treatment was resumed and completed. Sarcoidosis was cured as measured by clinical and x-ray parameters and no relapse occurred under the following observation of more than 10 years. As the time course of disease in 4 other patients with pregnancies was comparable, these results lend further support to the benefit of our therapy and underline the urgent need of a controlled prospective study.

Adult↗

Carotid and vertebral artery injury following severe head or cervical spine trauma.

In order to determine the frequency of neck vessel injuries, Doppler investigations were performed in 60 patients following either severe head injury (n = 29), cervical spine injury (n = 26), or combined head and cervical spine injury (n = 5). The majority of patients were referred to our hospital for early rehabilitation; before admission Doppler investigations had been performed in only 2 patients. Clinically, 3 patients sustained severe cerebral ischemia due to neck vessel trauma: 1 patient with left-sided ICA dissection after head trauma revealed Doppler abnormalities only in the early phase of the disease; the second patient demonstrated persistent Doppler abnormalities due to traumatic right-sided ICA and VA occlusion. The third patient sustained a fatal vertebral and basilar artery thrombosis following cervical spine injury. In 57 patients without clinical signs suspicious of neck vessel trauma, sonography revealed abnormalities in 3 patients (11%) with severe head injury and in 6 patients (20%) with cervical spine or combined head and spine injury, in both groups mainly related to the vertebrobasilar system. Neck vessel injury is probably an underdiagnosed complication of severe head or cervical spine trauma. Although interpretation of Doppler findings may be difficult, particularly in the vertebrobasilar system, Doppler investigations can be recommended as a screening method to exclude neck vessel injuries.

Adolescent↗