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Biomedical subjects

R Lachman

Publications and source records attributed to R Lachman.

At least 37 records · Page 2Linked to original sources
PubMed1991

[Professional and personal characteristics of Israeli public hospital physicians].

The profile of the Israeli public hospital physician was evaluated in a survey of 703 physicians. Background variables (age, sex, marital status), working habits (time devoted to various activities, management position) professional characteristics (specialty, seniority, tenure, etc.) and hospital characteristics (size, ownership) were recorded. The profile that emerged was that of physicians in their early 40's, the majority men, 2/3 senior physicians, and half with tenure. They work 50 to 60 hours a week, mostly in clinical work, with less than 10% of their time in research. Physician mobility between hospitals is low: in any 5-year period very few positions become available, and then usually only when physicians retire. For these openings there is severe competition by a large number of residents. It is clear that research in hospitals should be encouraged in order to maintain hospital standards.

Adult↗
PubMed1990

Geleophysic dysplasia: a storage disorder affecting the skin, bone, liver, heart, and trachea.

Geleophysic dysplasia is characterized by typical facies ("happy natured"), small hands and feet, short stature, hepatomegaly, and progressive cardiac disease. We describe five patients (two of whom are siblings) with this disorder and document its variable expressivity. The facies were strikingly similar with small nose, anteverted nostrils, broad nasal bridge, and long thin upper lip with flat and long philtrum. Behavior, development, and intelligence were normal. Growth delay was noticed during infancy, and the two patients who completed normal puberty had marked short stature (140 and 150 cm), with relatively lean body habitus. The hands and feet were small, with short, plump tubular bones and broad proximal phalanges, associated with marked limitation in motion of fingers and wrists. The liver was enlarged after the age of 3 years. Two patients had mild mitral and tricuspid valve stenosis and one had severe aortic stenosis. The most severely affected child died at 3 1/2 years of age of airway obstruction as a result of progressive tracheal narrowing. Lysosomal storage vacuoles were found in skin epithelial cells from three patients whose skin was examined, and in the tracheal mucosa, liver, cartilage and macrophages of the child who died. The basic defect of this autosomal recessive lysosomal storage disease remains to be determined.

Adolescent↗
PubMed1990

Intravenous erythromycin for postpyloric intubation.

Of 100 consecutive patients referred for antroduodenal manometry, we successfully intubated 89 with endoscopic and/or fluoroscopic guidance. In 8 of 8 patients who had failed with our usual techniques, we infused erythromycin 3 mg/kg i.v. over 1 h, and the tube moved through the pylorus and into the duodenum. Erythromycin, which stimulates propagation of 3 high amplitude antral contractions/min, appears to be a safe, noninvasive means to facilitate the postpyloric passage of tubes.

Adolescent↗
PubMed1989

Brachyolmia: radiographic and genetic evidence of heterogeneity.

Brachyolmia refers to a form of skeletal dysplasia characterized by general platyspondyly without significant epiphyseal, metaphyseal, or diaphyseal changes in the long bones. As a result of a study of 11 patients from 7 different families and a review of the literature we propose that there are 3 and possibly 4 different types of brachyolmia: 1. Hobaek type--an autosomal recessive condition with universal platyspondyly, irregular, and reduced intervertebral spaces and marked extension of the lateral margins of the vertebrae. Rectangular and elongated vertebral bodies are seen on lateral views of the spine, which become more pronounced with age. Toledo type--radiographically similar to Hobaek type but also associated with corneal opacities and precocious ossification of costal cartilage. It is uncertain as to whether this represents variability or heterogeneity. 2. Maroteaux type--an autosomal recessive disorder that is distinguished from Hobaek type by rounding of the anterior and posterior vertebral borders with less elongation on lateral view and less lateral extension on A.P. view. This type may be associated with precocious calcification of the falx cerebri, and minor facial anomalies. 3. Dominant type--a previously underscribed form which we have observed in a mother and her son. This type has the most severe vertebral changes with flattening and irregularities of the cervical spine. These clinical, radiological, and genetic differences suggest genetic heterogeneity in this group of platyspondylic disorders.

Abnormalities, Multiple↗
PubMed1989

Odontoid hypoplasia with vertebral cervical subluxation and ventriculomegaly in metatropic dysplasia.

Our experience with 12 patients with metatropic dysplasia has demonstrated two important and treatable complications: odontoid hypoplasia with subluxation of the first and second cervical vertebrae, and ventriculomegaly. Hypoplasia and lack of ossification of the odontoid process were noted in all cases. Subluxation of these two vertebrae was demonstrated in all six patients who had lateral flexion-extension radiographs; three had subluxation even in a neutral position, and sudden odontoid dislocation developed in another after a simple fall. Four individuals have had surgical fusion of the cervical vertebrae; one child died suddenly, 1 week before scheduled surgery. In the three patients in whom computed tomography scans of the head were obtained, enlarged ventricles were found; one had symptomatic increased intracranial pressure and required a shunt. We recommend that odontoid hypoplasia be evaluated in all patients with metatropic dysplasia. If subluxation is proved, atlantoaxial fusion should be performed before damage to the cervical part of the spinal cord results. Serial head circumference measurements and evaluation for hydrocephalus are also recommended.

Adolescent↗
PubMed1989

Comprehension aids for on-line reading of expository text.

A chapter of expository text was presented on a CRT with optional "windowing" of definitions of selected words varying in relevance to each screen's main ideas. A test treatment was interposed to influence reading strategies. Dependent variables included text reading time, frequency of definition "calls," definition reading rates, and scores on a final comprehension test. Results indicate that a technical chapter can be read from a CRT with appreciable content retention. Subjects accessed 80% of available definitions, but those able to "call" content-relevant definitions increased their frequency of definition "calls." Definition reading rate diminished; comprehension and processing time increased only for subjects accessing the theoretically relevant definitions. The results suggest how the use of definitions enhances the comprehension of on-line training manuals, texts, and help screens. "Callable" definitions need not include all low-frequency technical concepts but only those relevant to reductive main ideas.

Adult↗
PubMed1988

Achondroplasia with ankylosing spondylitis.

A 41-year-old-white man with achondroplasia has been followed intermittently since age 27. During this time, he has complained of neck and back pain with limited mobility in both. Other problems have included temporomandibular joint pain, dysuria without apparent urinary tract infection iritis, anemia, and an elevated gamma globulin fraction. Recently he returned to the clinic complaining of rigidity of the entire spine. Radiographs showed complete fusion of the sacroiliac joints and fusion of the cervical vertebral bodies and apophyseal joints, consistent with ankylosing spondylitis. He was found to be HLA B-27 positive. This case illustrates the importance of considering other diseases whenever atypical orthopedic problems arise in patients with a bone dysplasia.

Achondroplasia↗
PubMed1988

Spectrum of Di George syndrome in patients with truncus arteriosus: expanded Di George syndrome.

A study of 26 patients with truncus arteriosus showed a high prevalence of facial dysmorphism, aortic arch abnormalities, extracardiac malformations, and significant prenatal risk factors. There was little evidence of parathyroid or thymic abnormalities. However, there was laboratory evidence of immune deficiency, especially T-helper lymphocytes, and clinical evidence of predilection to infection. These findings suggest that patients with truncus arteriosus belong to the spectrum of the Di George syndrome.

Abnormalities, Multiple↗
PubMed1988

Achondrogenesis type I: delineation of further heterogeneity and identification of two distinct subgroups.

Achondrogenesis has traditionally been divided into type I (Parenti-Fraccaro) and type II (Langer-Saldino). We studied the clinical, radiologic, and morphologic features of 17 cases previously diagnosed as achondrogenesis type I to define whether there is even further heterogeneity. On radiographic analysis, two distinct groups of patients were defined based on the presence or absence of rib fractures and ossification of the vertebral pedicles, ischium, and fibula. Two distinct chondroosseous morphologic patterns were observed that directly correlated with the radiographic grouping. One group had round vacuolated chondrocytes with inclusion bodies; the other had collagenous rings around the chondrocytes. We conclude that achondrogenesis type I (Parenti-Fraccaro) consists of two distinct disorders: type IA, which corresponds to the cases originally published by Houston et al. and Harris et al., and type IB, which corresponds to the case originally published by Fraccaro. Analysis of Parenti's case suggests the diagnosis of achondrogenesis type II. All three types of achondrogenesis appear to be inherited as autosomal recessive traits.

Enchondromatosis↗
PubMed1987

Dyssegmental dysplasias: clinical, radiographic, and morphologic evidence of heterogeneity.

The dyssegmental dysplasias are lethal forms of neonatal short-limbed dwarfism in which vertebral segmentation defects and short, thick, bowed long bones are the prominent radiographic features. Clinically, unusual facies, short neck, narrow thorax, cleft palate, and reduced joint mobility are commonly seen. To date, 18 cases of dyssegmental dysplasia have been reported. Reports of three pairs of affected sibs suggest autosomal recessive inheritance. We have studied eight additional cases of dyssegmental dysplasia, including one pair of affected sibs. Clinical, radiographic, and histologic examination of these new cases and review of the literature demonstrates the presence of at least two distinct forms of dyssegmental dysplasia. The milder form, "dyssegmental dysplasia, type Rolland-Desbuquois," is characterized clinically by frequent survival beyond the newborn period and by distinct radiographic changes resembling Kniest dysplasia. The severe form, "dyssegmental dysplasia, type Silverman-Handmarker," is characterized by stillbirth or death within the first few days of life and by distinct and more severe radiographic changes. In addition, we have demonstrated chondro-osseous morphologic differences between the two disorders by light and electron microscopy. We conclude that there are at least two forms of dyssegmental dysplasia, each autosomal recessive, which can be delineated on clinical, radiographic and morphologic grounds.

Abnormalities, Multiple↗
PubMed1986

Achondrogenesis II-hypochondrogenesis: variability versus heterogeneity.

Recently hypochondrogenesis was described as a form of neonatally lethal dwarfism said to resemble spondyloepiphyseal dysplasia congenita radiographically and achondrogenesis II morphologically. Because of the difficulty in distinguishing radiographically between mild achondrogenesis II and severe hypochondrogenesis, we performed a clinical, radiographic, and morphologic study of 24 cases originally classified as either achondrogenesis II or hypochondrogenesis, in an attempt to distinguish between heterogeneity and clinical variability. Review of the radiographic findings in these cases show a fairly continuous spectrum of bony defects, rather than two distinct radiographic syndromes. Chondro-osseous histology and ultrastructure was similar in all cases regardless of severity and was characterized by hypervascularity and hypercellularity of the cartilage with multiple small, round dilated cysternae of rough endoplasmic reticulum. These findings suggest that hypochondrogenesis and achondrogenesis type II represent a spectrum with marked phenotypic variability.

Bone and Bones↗
PubMed1986

A distinct lethal neonatal chondrodysplasia with snail-like pelvis: Schneckenbecken dysplasia.

We describe the clinical, radiographic, histopathologic, and ultrastructural features of a distinct neonatal lethal chondrodysplasia inherited as an autosomal recessive trait. The characteristic radiographic findings consist of flattened, hypoplastic vertebral bodies; short ribs; hypoplastic iliac bones with "a snail-like" configuration; short, broad long-bones with dumbbell-like appearance; short and wide fibula; and precocious ossification of the tarsus. Chondro-osseous histology is characteristic with hypervascularity, increased cellular density, and normal size chondrocytes with a centrally located round nucleus and absence of lacunar space. Because of the snail-like radiographic appearance of the pelvis in this disorder, we propose the name "Schneckenbecken dysplasia" (ie, German for snail pelvis).

Dwarfism↗
PubMed1986

The immunocompetence of children with congenital heart disease.

We studied the immunocompetence of 18 children with conotruncal malformations (13 with tetralogy of Fallot, 5 with truncus arteriosus) and 22 children with cardiac shunt lesions. There were reduced total T cell percentages and T helper cells in the conotruncal group but no T cell abnormality in the shunt group. Also, 7 of the 18 cases in the conotruncal group had facial dysmorphism reminiscent of the Di George syndrome. These results suggest that patients with conotruncal malformations fall into the wide spectrum of the Di George syndrome. There was some humoral deficiency in both groups with reduced levels of immunoglobulins IgG and IgA and low levels of complement C3 and C4. The clinical records showed a high frequency of infections. Hospital admissions for these episodes had occurred in 61% of the conotruncal group and 32% of the shunt group. Thus, there is an increased susceptibility to infection in children with congenital heart disease, and the predilection to infection has an immunological basis.

B-Lymphocytes↗
PubMed1984

Syndrome of multiple pterygia, camptodactyly, facial anomalies, hypoplastic lungs and heart, cystic hygroma, and skeletal anomalies: delineation of a new entity and review of lethal forms of multiple pterygium syndrome.

Three unrelated stillborn infants (cases 1-3) are presented here with a distinct constellation of multiple anomalies: namely, multiple pterygia involving chin-to-sternum, cervical, axillary, antecubital, crural and/or popliteal areas, flexion contractures of multiple joints, small chest, hydrops, characteristic abnormal facial appearance with hypertelorism, markedly flattened nasal bridge with hypoplastic nasal alae, cleft palate, micrognathia, apparently low-set malformed ears, short neck with a cystic hygroma at the back of the neck and head, and pulmonary and cardiac hypoplasia. Radiographic studies, in addition, showed scalp edema, microbrachycephaly, flattened mandibular angle, lack of normal curvature at the cervico-thoracic junction, marked bony fusion of posterior spinous processes of older fetuses (cases 1, 2), thin crowded ribs, markedly hypoplastic scapulae, hypoplastic iliac wings, ischia and pubic bones, undermodeling of tubular bones, and radio-ulnar synostosis. Histologic studies of the skeletal system showed cartilaginous and bony fusion of the spinous processes (cases 1, 2), fusion of epiphyseal cartilages of distal humerus and proximal ulna, a poorly developed joint space, an abnormal growth plate, and weak safranin staining of the resting cartilages (cases 1, 2). To the best of our knowledge, this pattern of anomalies constitutes a previously undescribed syndrome. Prenatal diagnosis of this entity is possible by ultrasonographic studies on the basis of nonimmune fetal hydrops, a cystic hygroma at the back of the head and neck, diminished fetal activity, short and fixed limbs, and/or maternal hydramnios. Three additional cases (cases 4-6) are also presented to show a possible heterogeneity of this syndrome.

Abnormalities, Multiple↗
PubMed1984

Prenatal diagnosis of asphyxiating thoracic dysplasia.

A fetus at risk for asphyxiating thoracic dysplasia was studied with ultrasound examination at 16, 18, and 23 weeks of pregnancy. Definite shortness of fetal femora was observed. Radiographic and histologic examinations after pregnancy termination confirmed the diagnosis. Asphyxiating thoracic dysplasia appears to be one of an increasing number of skeletal dysplasias that can be diagnosed prenatally with ultrasound.

Asphyxia Neonatorum↗
PubMed1983

The Pena-Shokeir syndrome: report of five cases and further delineation of the syndrome.

We report on five cases of lethal Pena-Shokeir syndrome from three families with affected sibs. In addition to multiple anklyoses, camptodactyly, facial anomalies, and pulmonary hypoplasia, one fetus had pterygia of the neck and axillae and cardiac hypoplasia. Radiographic changes are nonspecific and probably are related to a lack of intrauterine movement. Our data and review of the literature suggest that pterygium formation is one of the manifestations of the Pena-Shokeir syndrome. A recently described lethal form of the recessively inherited multiple pterygium syndrome may represent a severe form of the Pena-Shokeir syndrome.

Abnormalities, Multiple↗