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PubMed2000

Sperm aster formation and pronuclear decondensation during rabbit fertilization and development of a functional assay for human sperm.

Microtubule organization and chromatin configurations in rabbit eggs after in vivo rabbit fertilization and after intracytoplasmic injection with human sperm were characterized. In unfertilized eggs, an anastral barrel-shaped meiotic spindle, oriented radially to the cortex, was observed. After rabbit sperm incorporation, microtubules were organized into a radial aster from the sperm head, and cytoplasmic microtubules were organized around the male and female pronuclei. The microtubules extending from the decondensed sperm head participated in pronuclear migration, and organization around the female pronucleus may also be important for pronuclear centration. Support for these observations was found in parthenogenetically activated eggs, in which microtubule arrays were organized around the single female pronucleus that formed after artificial activation. These observations support a biparental centrosomal contribution during rabbit fertilization as opposed to a strictly paternal inheritance pattern suggested from previous studies. In rabbit eggs that received injected human donor sperm, an astral array of microtubules radiated from the sperm neck and enlarged as the sperm head underwent pronuclear decondensation. gamma-Tubulin was observed in the center of the sperm aster. We conclude that the rabbit egg exhibits a blended centrosomal contribution necessary for completion of fertilization and that the rabbit egg may be a novel animal model for assessing centrosomal function in human sperm and spermatogenic cells following intracytoplasmic injection.

Animals↗
PubMed2002

DNA tests in prolific sheep from eight countries provide new evidence on origin of the Booroola (FecB) mutation.

Recent discoveries that high prolificacy in sheep carrying the Booroola gene (FecB) is the result of a mutation in the BMPIB receptor and high prolificacy in Inverdale sheep (FecX(I)) is the result of a mutation in the BMP15 oocyte-derived growth factor gene have allowed direct marker tests to be developed for FecB and FecX(I). These tests were carried out in seven strains of sheep (Javanese, Thoka, Woodlands, Olkuska, Lacaune, Belclare, and Cambridge) in which inheritance patterns have suggested the presence of major genes affecting prolificacy and in the prolific Garole sheep of India, which have been proposed as the ancestor of Australian Booroola Merinos. The FecB mutation was found in the Garole and Javanese sheep but not in Thoka, Woodlands, Olkuska, Lacaune, Belclare, and Cambridge sheep. None of the sheep tested had the FecX(I) mutation. These findings present strong evidence to support historical records that the Booroola gene was introduced into Australian flocks from Garole (Bengal) sheep in the late 18th century. It is unknown whether Javanese Thin-tailed sheep acquired the Booroola gene directly from Garole sheep from India or via Merinos from Australia. The DNA mutation test for FecB will enable breeding plans to be developed that allow the most effective use of this gene in Garole and Javanese Thin-tailed sheep and their crosses.

Animals↗
PubMed2003

Genetic loci that control vascular endothelial growth factor-induced angiogenesis.

Angiogenesis is regulated by the balance between angiogenic stimulators and inhibitors. Numerous reports have demonstrated that tumors induce aggressive angiogenesis by up-regulating the production of angiogenesis stimulating growth factors to overcome the baseline levels of endogenous inhibitors. However, the possibility of large differences in the host's responsiveness to angiogenic factors has been largely overlooked. Using the corneal micropocket neovascularization assay, we have observed >10-fold differences in responsiveness to either basic fibroblast growth factor (bFGF) or vascular endothelial growth factor (VEGF) among various mouse strains. The inheritance pattern observed for these traits supported a QTL (quantitative trait locus) approach to mapping the genes responsible for the differences in angiogenic responsiveness. To overcome variability in the assay, we used recombinant inbred lines to map this phenotype. In the BXD series of recombinant inbred mouse strains, we have mapped the regions responsible for regulating VEGF-induced angiogenesis using both composite interval mapping and multiple interval mapping. Both approaches link VEGF responsiveness to regions on chromosomes 2 (near D2Mit6) and 10 (near D10Mit20). Candidate angiogenesis-related genes in these regions include those for collagen XVIII/endostatin, matrix metalloproteinase 11, integrin beta2, prostaglandin D2 synthase, and interleukin-1 receptor antagonist.

Animals↗
PubMed2000

Sudden death in an 8-week-old infant with Beckwith-Wiedemann syndrome.

The authors report a case of a 2-month-old girl diagnosed with Beckwith-Wiedemann syndrome (BWS) who was born prematurely and died suddenly in the hospital just before being discharged. BWS is a malformation syndrome associated with an increased risk of childhood tumors. The major features of BWS are macroglossia, abdominal wall defects, and visceromegaly, frequently leading to premature birth. Due to complex inheritance patterns, a predominance of nonfamilial cases, and the variability in expression of the features (termed incomplete penetrance), the risk of delayed diagnosis is evident. Secondary to hyperplastic pancreatic islands, hypoglycemia occurs frequently, and if not anticipated, adequate measures for prevention of hypoglycemic episodes may be delayed, resulting in possible intellectual deficits. The infant presented here died of natural causes: immaturity of the lungs resulting in marginal respiratory function and compounded by increased risk for asphyxia secondary to the enlarged tongue. The clinical history and findings in this infant are discussed in respect to the genetic syndrome with their relevance to medicolegal examination and the causes and manner of death.

Autopsy↗
PubMed1992

Bilateral solitary glomus tumors of the hands.

Solitary glomus tumors of the digits are uncommon, comprising only about 2% of all hand tumors. In this report, we present a case report of a patient with bilateral glomus tumors that became symptomatic 4 years apart. No inheritance pattern was apparent for this patient. An extensive literature review did not uncover a similar patient. Because this condition does not appear to be widely recognized, we suggest that it be considered when patients present with bilateral digital pain.

Adult↗
PubMed1987

Recognition and treatment of patients with hereditary nonpolyposis colon cancer (Lynch syndromes I and II).

Primary genetic factors are etiologic in at least 5-10% of patients with colon cancer. The polyposis syndromes (FPC) are easily identified examples because of the spectacular number of polyps. The hereditary nonpolyposis syndromes (HNPCC), although five times more common than FPC, are usually not recognized because they do not have such a distinctive clinical, premonitory genetic marker. Colorectal cancer expression was surveyed in 10 extended, thoroughly documented HNPCC kindreds. One hundred sixteen patients were found to have 183 colorectal cancers. Despite the striking family history, less than 5% were correctly treated by subtotal colectomy. This provided a unique opportunity to study the natural history. Five findings differed significantly (p less than 0.05) from patients with sporadic colon cancer: (1) mean age of initial colon cancer diagnosed was 45.6 years; (2) 69.1% of first colon cancers were located proximal to the splenic flexure of the colon; (3) 18.1% had synchronous colon cancer; (4) 24.2% had metachronous colon cancer develop with life table analysis showing the risk for a metachronous lesion at 10 years to be 40%; and (5) only 23.3% of cancers were located in the sigmoid colon or rectum. Based on this data, it is recommended that the family history of all patients with a newly diagnosed colon cancer be evaluated for evidence of this syndrome. If an autosomal dominant inheritance pattern emerges, an in-depth genetic investigation is indicated. When HNPCC is confirmed, the following recommendations apply: a subtotal abdominal colectomy is indicated at the time of the initial colon cancer because of the risk of synchronous and metachronous lesions. The rectum should be spared in favor of careful lifetime surveillance because of the proclivity for proximal colon cancer involvement. As yet unaffected members of a newly diagnosed HNPCC kindred who are in the "direct genetic line" should be cautioned that they are at 50% risk and must begin an intensive surveillance program beginning in the third decade with careful attention to the right colon. Patients from newly diagnosed HNPCC families who have had a previous conventional colectomy for colon cancer should, at the very least, enter an intensive surveillance program; a prophylactic completion subtotal colectomy should be considered for patients who are less than totally compliant.

Adolescent↗
PubMed1999

Congenital trismus secondary to masseteric fibrous bands: endoscopically assisted exploration.

The authors present an 18-month-old female infant with congenital trismus. Computed tomography and magnetic resonance imaging were not helpful in determining the cause. A surgical endoscope was used to explore her temporomandibular joints and temporal fossae, thus avoiding the morbidity of a bicoronal incision. The cause was bilateral fibrous bands on the anterior border of the masseter muscles. Incision of these fibrous bands led to relief of the trismus. This finding is consistent with a previously described variant of the Hect-Beals-Wilson trismus-pseudocamptodactyly syndrome. This patient, however, had no evidence of the autosomal dominant inheritance pattern nor did she exhibit pseudocamptodactyly, both of which are generally ascribed to this syndrome. Unfortunately the trismus recurred 3 months postoperatively.

Abnormalities, Multiple↗
PubMed1992

Fibromyalgia syndrome. New associations.

Previous research has demonstrated a number of conditions, such as sleep disturbance, fatigue, depression, spastic colon and mitral valve prolapse, associated with fibromyalgia. The present report describes additional symptoms and medical conditions that appear to be associated with the syndrome based on a survey of 554 individuals with fibromyalgia compared with a group of 169 controls. Individuals with fibromyalgia self report a greater incidence of bursitis, chondromalacia, constipation, diarrhea, temporomandibular joint dysfunction, vertigo, sinus and thyroid problems. Symptomatic complaints found statistically more prevalent in fibromyalgia patients included concentration problems, sensory symptoms, swollen glands and tinnitus. Other associations occurring with significant increased frequency were chronic cough, coccygeal and pelvic pain, tachycardia and weakness. Our previous report on inheritance patterns in fibromyalgia was reaffirmed with 12% reporting symptomatic children and 25% reporting symptomatic parents. Of the respondents, 70% noted that their symptoms were aggravated by noise, lights, stress, posture and weather.

Adult↗
PubMed1991

Familial Alzheimer disease: a large, multigeneration German kindred.

A German family with 21 members affected by Alzheimer disease (AD) was studied clinically and genetically. The diagnosis was histologically verified in three affected family members. Ancestors were traced through seven generations to a couple residing in East-Westfalia during the middle of the 19th century. Dementia was often accompanied by extrapyramidal features and myoclonus. No cases of Down syndrome or hematologic malignancy occurred in this family. Clinical manifestations, temporal progression, neurological testing, and neuropathological features do not differ from the more common sporadic form of AD. The inheritance pattern is most consistent with autosomal-dominant transmission.

Aged↗
PubMed1989

Cherubism and its orbital manifestations.

Cherubism is a rare, fibroosseous lesion of the jaws that may have orbital manifestations of proptosis, lower eyelid retraction, superior globe displacement, and visual loss. Management of the orbital tumors in two cases from the same family is described. The original description of the disorder is reviewed. The inheritance pattern is autosomal dominant. Pathology findings show multinucleated giant cells in a vascular fibrous stroma. Teeth are often missing or displaced. Radiographic studies show symmetric cystic lesions in the jaws and sometimes involvement of the orbital floor and lateral orbital wall. Fibrous dysplasia is in the differential diagnosis, but can be distinguished by clinical characteristics. Treatment may involve curettement or recontouring of the bony lesions.

Adolescent↗
PubMed1997

Genes and inheritance.

The information gained from the Human Genome Project and related genetic research will undoubtedly create significant changes in health care practice. It is becoming increasing clear that nurses in all areas of clinical practice will require a fundamental understanding of basic genetics. This self-learning module provides the oncology nurse with an overview of basic genetic concepts including inheritance patterns of single gene conditions, pedigree construction, chromosome aberrations, and the multifactorial basis underlying many common diseases of adulthood. Normal gene structure and function will be introduced and the biochemistry of genetic errors will be described.

Chromosome Aberrations↗
PubMed2001

Genes and inheritance.

The information gained from the Human Genome Project and related genetic research will undoubtedly create significant changes in healthcare practice. It is becoming increasingly clear that nurses in all areas of clinical practice will require a fundamental understanding of basic genetics. This article provides the oncology nurse with an overview of basic genetic concepts, including inheritance patterns of single gene conditions, pedigree construction, chromosome aberrations, and the multifactorial basis underlying the common diseases of adulthood. Normal gene structure and function are introduced and the biochemistry of genetic errors is described.

Chromosome Aberrations↗
PubMed1988

Congenital nephrotic syndrome. Gallium-67 imaging.

Congenital nephrotic syndrome is a rare disorder. Heavy proteinuria, hypoalbuminemia, and edema occur during the first 3 months of life. Initial cases were reported from Finland and sporadic cases have occurred elsewhere. Finnish cases demonstrated an autosomal recessive inheritance pattern; currently, Finnish and non-Finnish types are recognized. The clinical course consists of failure to thrive, frequent infections, declining renal function, and early death by age 4 years from sepsis or uremia. Recently renal transplantation has improved the prognosis of patients with this disease. An abnormal Ga-67 scan in a case of congenital nephrotic syndrome is presented.

Gallium Radioisotopes↗
PubMed2002

A classification for genetic disorders of interest to orthopaedists.

The genetic etiology of many disorders of interest to the orthopaedist now is known. Based on this information, these disorders can be grouped broadly based on the function of the causative gene into five categories: structural, tumor and cell regulatory, developmental, important in nerve or muscle function, and protein processing (enzymes). In addition, some disorders are caused by large chromosomal abnormalities, which comprise a sixth class. Disorders in each of these categories share similarities in their clinical manifestations, treatment, prognosis, and inheritance pattern. This classification is a useful way to remember the major clinical manifestations and treatment principles for genetic disorders of interest to the orthopaedist.

Chromosome Aberrations↗
PubMed1998

Clinical features of bleb disorder of the cornea.

BACKGROUND: Bleb disorder of the cornea is a rare corneal epithelial disorder that has previously been described in asymptomatic patients or those with recurrent nontraumatic corneal erosions. METHODS: We report two cases of bleb disorder, each presenting with blurred vision from irregular astigmatism secondary to the bleb changes. We also report on the detection of bleb disorder in siblings. RESULTS: Both patients underwent surgical debridement of the epithelium with resolution of symptoms on epithelial resurfacing. CONCLUSION: The diagnostic clues, inheritance pattern, differential diagnosis, and treatment options of bleb disorder of the cornea are discussed.

Aged↗
PubMedDate not supplied

Selected genetic disorders affecting Ashkenazi Jewish families.

Ashkenazi Jews of Central and Eastern European ancestry have a disproportionately high prevalence of several autosomal recessive genetic disorders. This article describes these 9 disorders and their genetic inheritance patterns: Bloom syndrome; Canavan disease; cystic fibrosis; familial dysautonomia; Fanconi anemia; Gaucher disease; Mucolipidosis IV; Niemann-Pick disease; and Tay-Sachs disease. Genetic testing, counseling, and family planning options for the at-risk population are described. The role of the community health nurse is addressed.

Community Health Nursing↗
PubMedDate not supplied

Symptomatic talonavicular coalition.

Talonavicular coalition is reported as an asymptomatic congenital anomaly of the foot that is noticed incidentally on radiographs of the foot, and is often associated with symphalangism, clinodactyly, ball-and-socket ankle joint, a great toe that is shorter than the second toe, and an autosomal dominant inheritance pattern. We describe here three patients with five involved feet. All three patients had chronic foot pain not secondary to trauma, and all five feet required treatment to alleviate the pain.

Adolescent↗
PubMedDate not supplied

Navigating the maze of newborn screening.

Newborn screening tests are obtained for all live births in the United States in an effort to identify newborns affected with, or at risk for, various genetic and metabolic diseases. This screening began in the early 1960s with an inexpensive screening test for phenylketonuria (PKU), but the introduction of new technology in the 1990s using tandem mass spectrometry provided the means to screen for over 30 additional metabolic disorders. Newborn-screening programs are state funded and operated, and many factors affect whether certain conditions are included in a state's screening program, including how severe the condition would be if left untreated, the prevalence of that condition in the state's population, and whether there is a treatment available that would improve the course of illness. Numerous ethical issues must be considered concerning newborn screening. Some of these are disparity in access to screening and care, cost of screening, lack of standardized protocols for informed consent, and inconsistent policies for not only abnormal laboratory values but also follow-up diagnosis and medical management. Nurses who work with mothers and infants need to (1) be aware of the laws and policies regarding newborn screening for their state, (2) become familiar with the conditions screened, their inheritance patterns, and their early symptoms, and (3) understand what parents need to be told so that they are able to make informed decisions about their newborns.

Genetic Diseases, Inborn↗