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2.
J Perinatol ; 36(11): 1001-1007, 2016 11.
Article in English | MEDLINE | ID: mdl-27583386

ABSTRACT

OBJECTIVE: Nurses provide parental support and education in the neonatal intensive care unit (NICU), but it is unknown if satisfaction and expectations about nursing care differ between racial groups. STUDY DESIGN: A prospective cohort was constructed of families with a premature infant presenting to primary care between 1 January 2010 and 1 January 2013 (N=249, 52% white, 42% black). Responses to questions about satisfaction with the NICU were analyzed in ATLAS.ti using the standard qualitative methodology. RESULTS: One hundred and twenty (48%) parents commented on nursing. Fifty-seven percent of the comments were positive, with black parents more negative (58%) compared with white parents (33%). Black parents were most dissatisfied with how nurses supported them, wanting compassionate and respectful communication. White parents were most dissatisfied with inconsistent nursing care and lack of education about their child. CONCLUSIONS: Racial differences were found in satisfaction and expectations with neonatal nursing care. Accounting for these differences will improve parental engagement during the NICU stay.


Subject(s)
Neonatal Nursing/organization & administration , Nurse-Patient Relations , Nursing Care/psychology , Parents/psychology , Patient Satisfaction , Adolescent , Adult , Black or African American/psychology , Culturally Competent Care , Empathy , Female , Humans , Infant, Newborn , Infant, Premature , Intensive Care Units, Neonatal/organization & administration , Male , Prospective Studies , Surveys and Questionnaires , White People/psychology , Young Adult
3.
Int J Tuberc Lung Dis ; 19(9): 1027-32, 2015 Sep.
Article in English | MEDLINE | ID: mdl-26260819

ABSTRACT

SETTING: South Granada Health Area (SGHA), Spain. OBJECTIVE: To describe the characteristics of concomitant tuberculosis (TB) and lung cancer cases. DESIGN: A total of 319 TB cases diagnosed between January 2003 and December 2010 were evaluated and identified using a prospective database. During this period, samples of bronchial secretions were obtained from all patients who underwent fibreoptic bronchoscopy (FBS) as part of a TB screening programme. A descriptive study was conducted. RESULTS: Concomitant TB and lung cancer were diagnosed in 15 cases (4.7% of total TB cases). The most common radiographic finding was atelectasis (53.3%), and the most common histological type was epidermoid carcinoma (60%). Lung cancer stage was advanced (III-IV) in 60% of the cases. CONCLUSION: The association between TB and lung cancer found in the SGHA after implementing a TB screening programme was higher than in other studies. This suggests that it would be advisable to perform acid-fast bacilli smear and mycobacterial culture of bronchial aspirates in all patients with presumed lung cancer, particularly in high TB prevalence areas.


Subject(s)
Carcinoma, Squamous Cell/diagnosis , Lung Neoplasms/diagnosis , Lung/pathology , Mycobacterium tuberculosis/isolation & purification , Tuberculosis/complications , Aged , Biopsy , Bronchoscopy , Carcinoma, Squamous Cell/microbiology , Comorbidity , Female , Humans , Lung Neoplasms/microbiology , Male , Middle Aged , Neoplasm Staging , Prospective Studies , Spain
4.
Pediatr Transplant ; 18(2): E57-63, 2014 Mar.
Article in English | MEDLINE | ID: mdl-24438382

ABSTRACT

The most common identifiable causes of acute liver failure in pediatric patients are infection, drug toxicity, metabolic disease, and autoimmune processes. In many cases, the etiology of acute liver failure cannot be determined. Acute leukemia is an extremely rare cause of acute liver failure, and liver transplantation has traditionally been contraindicated in this setting. We report a case of acute liver failure in a previously healthy 15-yr-old male from pre-B-cell acute lymphoblastic leukemia. He underwent liver transplantation before the diagnosis was established, and has subsequently received chemotherapy for pre-B-cell acute lymphoblastic leukemia. He is currently alive 31 months post-transplantation. The published literature describing acute lymphoblastic leukemia as a cause of acute liver failure is reviewed.


Subject(s)
Leukemia, B-Cell/complications , Leukemia, B-Cell/therapy , Liver Failure, Acute/complications , Liver Failure, Acute/surgery , Liver Transplantation , Precursor Cell Lymphoblastic Leukemia-Lymphoma/complications , Precursor Cell Lymphoblastic Leukemia-Lymphoma/therapy , Adolescent , Biopsy , Humans , Immunosuppressive Agents/therapeutic use , Liver/pathology , Liver Function Tests , Male , Tissue Donors , Treatment Outcome
5.
Acta Psychol (Amst) ; 144(1): 83-96, 2013 Sep.
Article in English | MEDLINE | ID: mdl-23770570

ABSTRACT

In psycholinguistic studies using error rates as a response measure, response times (RT) are most often analyzed independently of the error rate, although it is widely recognized that they are related. In this paper we present a mixed effects logistic regression model for the error rate that uses RT as a trial-level fixed- and random-effect regression input. Production data from a translation-recall experiment are analyzed as an example. Several model comparisons reveal that RT improves the fit of the regression model for the error rate. Two simulation studies then show how the mixed effects regression model can identify individual participants for whom (a) faster responses are more accurate, (b) faster responses are less accurate, or (c) there is no relation between speed and accuracy. These results show that this type of model can serve as a useful adjunct to traditional techniques, allowing psycholinguistic researchers to examine more closely the relationship between RT and accuracy in individual subjects and better account for the variability which may be present, as well as a preliminary step to more advanced RT-accuracy modeling.


Subject(s)
Auditory Perception , Language , Models, Psychological , Reaction Time , Speech , Adult , Female , Humans , Linear Models , Logistic Models , Male , Research Design , Spain
6.
Am J Transplant ; 13(3): 808-10, 2013 Mar.
Article in English | MEDLINE | ID: mdl-23331705

ABSTRACT

Posterior reversible encephalopathy syndrome (PRES) is a small vessel microangiopathy of the cerebral vasculature that occurs in 0.5-5% of solid organ transplant recipients, most commonly associated with tacrolimus (Tac). Clinical manifestations include hypertension and neurologic symptoms. We report an adult multivisceral transplant recipient who experienced recurrent PRES initially associated with Tac and subsequently with sirolimus. A 49-year-old woman with short bowel syndrome underwent multivisceral transplantation due to total parenteral nutrition-related liver disease. She was initially maintained on Tac, mycophenalate mofetil (MMF) and prednisone. Three months after transplantation, she developed renal dysfunction, leading to a reduction in Tac and the addition of sirolimus. Eight months after transplantation, she developed PRES. Tac was discontinued and PRES resolved. Sirolimus was increased to maintain trough levels of 12-15 ng/mL. Fourteen months after transplant, she experienced recurrent PRES which resolved after discontinuing sirolimus. Currently 3 years posttransplant, she is maintained on cyclosporine, MMF and prednisone with no PRES recurrence. In addition to calcineurin inhibitors, sirolimus may also be associated with PRES after solid organ transplantation. Ours is the first report of sirolimus-associated PRES in the setting of multivisceral transplantation. Identifying a safe alternative immunosuppression regimen was challenging but ultimately successful.


Subject(s)
Graft Rejection/drug therapy , Liver Diseases/surgery , Liver Transplantation/adverse effects , Posterior Leukoencephalopathy Syndrome/chemically induced , Postoperative Complications/prevention & control , Sirolimus/adverse effects , Tacrolimus/adverse effects , Female , Graft Rejection/chemically induced , Humans , Immunosuppressive Agents/adverse effects , Middle Aged , Posterior Leukoencephalopathy Syndrome/drug therapy , Prognosis , Recurrence
7.
Am J Transplant ; 12(8): 2242-6, 2012 Aug.
Article in English | MEDLINE | ID: mdl-22594310

ABSTRACT

Restoring abdominal wall cover and contour in children undergoing bowel and multivisceral transplantation is often challenging due to discrepancy in size between donor and recipient, poor musculature related to birth defects and loss of abdominal wall integrity from multiple surgeries. A recent innovation is the use of vascularized posterior rectus sheath to enable closure of abdomen. We describe the application of this technique in two pediatric multivisceral transplant recipients--one to buttress a lax abdominal wall in a 22-month-old child with megacystis microcolon intestinal hypoperistalsis syndrome and another to accommodate transplanted viscera in a 10-month child with short bowel secondary to gastoschisis and loss of domain. This is the first successful report of this procedure with long-term survival. The procedure has potential application to facilitate difficult abdominal closure in both adults and pediatric liver and multivisceral transplantation.


Subject(s)
Abnormalities, Multiple/surgery , Intestinal Pseudo-Obstruction/surgery , Organ Transplantation , Colon/abnormalities , Colon/surgery , Female , Humans , Infant , Male , Transplantation, Homologous , Urinary Bladder/abnormalities , Urinary Bladder/surgery
8.
J Bone Joint Surg Br ; 93(12): 1617-20, 2011 Dec.
Article in English | MEDLINE | ID: mdl-22161923

ABSTRACT

Symptomatic and asymptomatic deep-vein thrombosis (DVT) is a common complication of knee replacement, with an incidence of up to 85% in the absence of prophylaxis. National guidelines for thromboprophylaxis in knee replacement are derived from total knee replacement (TKR) data. No guidelines exist specific to unicompartmental knee replacement (UKR). We investigated whether the type of knee arthroplasty (TKR or UKR) was related to the incidence of DVT and discuss the applicability of existing national guidelines for prophylaxis following UKR. Data were collected prospectively on 3449 knee replacements, including procedure type, tourniquet time, surgeon, patient age, use of drains and gender. These variables were related to the incidence of symptomatic DVT. The overall DVT rate was 1.6%. The only variable that had an association with DVT was operation type, with TKR having a higher incidence than UKR (2.2% versus 0.3%, p < 0.001). These data show that the incidence of DVT after UKR is both clinically and statistically significantly lower than that after TKR. TKR and UKR patients have different risk profiles for symptomatic DVT. The risk-benefit ratio for TKR that has been used to produce national guidelines may not be applicable to UKR. Further research is required to establish the most appropriate form of prophylaxis for UKR.


Subject(s)
Arthroplasty, Replacement, Knee/methods , Postoperative Complications/epidemiology , Practice Guidelines as Topic , Venous Thrombosis/epidemiology , Adult , Aged , Aged, 80 and over , Arthroplasty, Replacement, Knee/adverse effects , Female , Humans , Incidence , Male , Middle Aged , Postoperative Complications/etiology , Prospective Studies , Risk Factors , Treatment Outcome , Venous Thrombosis/etiology , Venous Thrombosis/prevention & control
9.
J Environ Manage ; 80(3): 191-7, 2006 Aug.
Article in English | MEDLINE | ID: mdl-16338057

ABSTRACT

Assessment methods for determining the presence and number of fecal bacteria and Escherichia coli (E. coli) in waters, foodstuffs, sewage effluent, and soils have evolved from multiple tube fermentations (MTF's) to membrane filtrations (MF's) to, most recently, defined substrate technologies (DST's). Mounting evidence indicates Colilert DST (IDEXX, Westbrook, ME) to be a versatile assessment technique for detecting and enumerating E. coli over a range of applications. This study compared the performance of Colilert DST with a confirmed standard MF technique using m-FC broth (Millipore, Bedford, MA) in assessing E. coli in ten different environmental water samples obtained monthly over a 3-year period from the upper Appomattox River, VA. For the duration of the study, E. coli counts measured by Colilert DST were positively correlated (Pearson's correlation coefficient=0.956; slope=0.979; p<0.0001) with E. coli counts measured by confirmed MF procedures. The results of a two-factor ANOVA revealed that Colilert DST counts compared equally to confirmed MF counts by year (p=0.974), by stream sampled (p=1.0), and by season (p=0.696). E. coli counts were significantly lower during cold season months (Dec/Jan/Feb) than during warm season months (Jun/Jul/Aug) for each year contributing to marked variation in sample quality. Counts obtained by Colilert DST compared equally to those obtained by MF across all samples and dates for the three years. Colilert DST presents a laboratory protocol that is simpler to manage, quicker to process, and easier to quantify results than MF. These factors, plus the enhanced precision and versatility of Colilert DST over the span of this three-year study attests to its suitability for testing ambient surface waters.


Subject(s)
Enterobacteriaceae/isolation & purification , Escherichia coli/isolation & purification , Water Microbiology , Water Purification/methods , Analysis of Variance , Colony Count, Microbial , Feces/microbiology , Filtration
10.
Emergencias (St. Vicenç dels Horts) ; 17(6): 251-259, dic. 2005. tab
Article in Spanish | IBECS | ID: ibc-134327

ABSTRACT

Objetivos: Analizar la relación existente entre el tipo de Atención Primaria que el paciente tiene asignada (centro de salud o centro no reconvertido) y el uso de un Servicio de Urgencias Hospitalario. Métodos: Diseño: estudio transversal. Período de estudio: 1 noviembre2000 a 31 octubre 2001. Entorno: Área de Urgencias del Hospital Médico Quirúrgico 'Ruiz de Alda', Granada. Población de estudio: Muestra aleatoria estratificada por semanas y días de todos los usuarios del servicio de urgencias, mayores de 14 años y pertenecientes a la población de referencia. Se recogió información sobre variables demográficas, hora y forma de acceso a la urgencia, tipo, características y utilización de la atención primaria asignada, modalidad de derivación a urgencias, motivo de consulta y adecuación de la urgencia. Se han calculado OR crudas, estratificadas y ajustadas para estudiar la asociación entre tipo de atención primaria: Centro de Salud o Centro No Reconvertido y la inadecuación de la consulta a urgencias. Resultados y conclusión: La atención primaria en centros no reconvertidos se asoció con una frecuencia de uso inadecuado de la urgencia1,27 veces mayor que la atención en centros de salud (IC95%=1,01-1,59). Esta asociación aumentó al estratificar por determinadas variables, siendo más elevada en los estratos ligados a una mayor utilización de los servicios de atención primaria, lo que podría suponer mejor capacidad resolutiva para los centros de salud respecto a los centros no reconvertidos (AU)


Aims: To analyze the relationships between Primary Care Pattern(reformed health centre or traditional ambulatory centre) and the utilization of the Hospital Emergency Department. Methods: Design: Cross sectional study. Study period: From November1, 2000 to October 31, 2001. Setting: Emergency Department, Granada Hospital Ruiz de Alda. Study population: Radon sample stratified by week and day of the week chosen between all patients 14 years and oldest attended at the Emergency Department. Variables: Socio-demographic characteristics, time and reasons of the attending, pattern of primary care assigned, frequency and type of primary care consultation, whether patients attended on the own initiative or they are referral by primary care physicians, and if the ED use is appropriate based on explicit criteria. We estimated the crude and stratified odds ratio between primary care pattern and inappropriate use of the ED. Results and Conclusion: Primary care in traditional ambulatory centres was associated with greater frequency of inappropriate ED use (OR1.27; IC95%=1.01-1.59). This figure increased when data were stratified by other variables. The bigger associations were for population strata with high service utilization. This could meant reformed primary care centre have better decisive ability (AU)


Subject(s)
Humans , Primary Health Care/organization & administration , Emergency Medical Services/organization & administration , Health Services Misuse/statistics & numerical data , Community Health Centers/organization & administration , Cross-Sectional Studies
11.
Brain Behav Immun ; 19(5): 423-35, 2005 Sep.
Article in English | MEDLINE | ID: mdl-15935613

ABSTRACT

Prolonged, exhaustive exercise has been associated with impaired immune responsiveness and increased susceptibility to infection. We have shown that one bout of exercise to fatigue followed by viral challenge increases mortality. Stress hormones such as corticosteroids and catecholamines have been suggested as potential mediators of exhaustive exercise-induced immunosuppression. The purpose of this study was to determine whether the administration of pharmacological agents to block the effect of catecholamines or corticosteroids would minimize the immunosuppression associated with this type of exercise. Mice either exercised to fatigue or were exposed to control conditions, and mice received an i.p. injection of either nadolol (beta-adrenergic receptor antagonist), RU486 (glucocorticoid type II receptor antagonist), or vehicle. Fifteen minutes post-exercise, mice were exposed to viral infection (Herpes simplex virus; HSV) via an intranasal route, and cells were collected 3 days post-infection. The results showed that exercise suppressed HSV-specific cell proliferation, HSV-specific IL-2, and IFN-gamma, but did not alter these same immune parameters when the mitogen ConA was used to stimulate cells. In addition, exercise reduced NK cell cytotoxicity, alveolar cell TNFalpha, and peritoneal IL-1beta, but did not affect IL-10. The pharmacological blockade did not attenuate the exercise-associated immunosuppression. In fact, RU486 treatment exacerbated the exercise-induced decline in HSV-induced IL-2 production and cell proliferation. RU486 and nadolol treatment also tended to decrease IL-10, IFN-gamma, TNFalpha (nadolol only), and IL-1beta (RU486 only) in both exercise and control mice, suggesting that stress hormones may be necessary during infection for optimal responsiveness. These findings suggest that suppression of immune defenses during viral infection persists for at least 3 days post-exercise, and stress hormones may be essential for optimal immune defense to viral challenge, rather than detrimental.


Subject(s)
Catecholamines/physiology , Cell Proliferation , Glucocorticoids/metabolism , Glucocorticoids/physiology , Interleukin-2/biosynthesis , Physical Exertion/physiology , Virus Diseases/immunology , Virus Diseases/metabolism , Animals , Antigens, Viral/immunology , Cell Survival/drug effects , Cells, Cultured , Concanavalin A/pharmacology , Cytokines/analysis , Cytokines/biosynthesis , Herpes Simplex/immunology , Herpes Simplex/metabolism , Herpesvirus 1, Human/immunology , Killer Cells, Natural/immunology , Macrophages, Peritoneal/immunology , Macrophages, Peritoneal/metabolism , Male , Mice , Mice, Inbred BALB C , Mitogens/pharmacology , Pulmonary Alveoli/cytology , Pulmonary Alveoli/drug effects , Th1 Cells/immunology , Th2 Cells/immunology
12.
J Pharmacol Exp Ther ; 308(2): 644-50, 2004 Feb.
Article in English | MEDLINE | ID: mdl-14600252

ABSTRACT

In this study, we assessed the effects of chronic prenatal ethanol exposure (CPEE) on spatial navigation in the water maze, conditioned responding using food-reinforced lever pressing, and amino acid neurotransmitter release from the hippocampus of the adult guinea pig. Pregnant guinea pigs were treated with ethanol (3 g/kg of maternal body weight/day), isocaloric-sucrose/pair-feeding, or water throughout gestation. Adult offspring were trained in two-lever operant chambers to respond for sucrose pellets, with one lever designated as the reward lever. There were no group differences in response acquisition or lever discrimination on a fixed-ratio 1 (FR-1) schedule. During extinction sessions, CPEE offspring maintained higher levels of responding on the previously reinforced lever, suggesting that CPEE increases perseveration and/or impairs response inhibition but does not affect operant responding for an appetitive reinforcer or the ability to discriminate rewarding from nonrewarding stimuli. In contrast, there was no effect of CPEE on performance in the water maze in the maternal ethanol regimen used in this study. CPEE did not alter electrically evoked glutamate or GABA release from hippocampal brain slices. However, when slices were tested after delivery of a tetanizing stimulation (five 5-s trains at 100 Hz), post-tetanic potentiation of electrically stimulated GABA release was greater in hippocampal slices obtained from CPEE offspring, whereas post-tetanic potentiation of electrically stimulated glutamate release was unaffected. These data suggest that conditioned learning is a sensitive behavioral measure of CPEE-induced brain injury. Increased activity-dependent potentiation of GABA release in the hippocampus may contribute to alterations in synaptic plasticity observed in CPEE offspring.


Subject(s)
Ethanol/pharmacology , Hippocampus/drug effects , Maze Learning/drug effects , Prenatal Exposure Delayed Effects , gamma-Aminobutyric Acid/metabolism , Animals , Biological Transport , Central Nervous System Depressants/pharmacology , Conditioning, Psychological/drug effects , Female , Guinea Pigs , Hippocampus/metabolism , Neurotransmitter Agents/metabolism , Pregnancy , Pregnancy Outcome
15.
Med. integral (Ed. impr) ; 38(2): 57-63, jun. 2001. tab, ilus
Article in Es | IBECS | ID: ibc-15804

ABSTRACT

El médico de familia debe ser capaz no sólo de identificar una ascitis, sino también de hacer una aproximación diagnóstica, un correcto tratamiento médico de la misma y conocer las posibles complicaciones que pueden aparecer en un paciente afectado de esta enfermedad, para prevenir su aparición y, en el caso de que aparezca, poder decidir su traslado a un centro hospitalario. Para ello es fundamental que el médico de familia tenga claro cuáles son los criterios de derivación hospitalaria de un enfermo con ascitis y cómo ha de realizarse dicho traslado. En el presente artículo se analizará brevemente la fisiopatología de la ascitis, haciendo más hincapié sobre clínica y diagnóstico; se tratará con detenimiento el tratamiento médico de ésta en el ámbito de atención primaria, se definirán cuáles son los criterios de derivación hospitalaria, haciendo una pequeña mención a la técnica de la paracentesis evacuadora, técnica hasta ahora reservada al medio hospitalario, cuya realización se empieza a plantear en atención primaria (AU)


Subject(s)
Humans , Ascites/diagnosis , Ascites/therapy , Primary Health Care , Ascites/physiopathology
16.
Med. integral (Ed. impr) ; 37(9): 383-389, mayo 2001. tab
Article in Es | IBECS | ID: ibc-7336

ABSTRACT

Se denomina hipertiroidismo a un trastorno funcional del tiroides caracterizado por la secreción, y el consiguiente paso a la sangre, de cantidades excesivas de hormonas tiroideas en relación con las necesidades del organismo. El exceso de hormona tiroidea se traduce en un cuadro clínico de gran expresividad. La incidencia anual es del 3 por ciento, la prevalencia en varones es del 0,1-0,2 por ciento y en mujeres 1,9-2,7 por ciento.En este artículo se analizan fundamentalmente las cuatro patologías que con mayor frecuencia generan este cuadro clínico (AU)


Subject(s)
Female , Male , Humans , Hyperthyroidism/diagnosis , Hyperthyroidism/therapy , Hyperthyroidism/epidemiology , Graves Disease/diagnosis , Graves Disease/epidemiology , Graves Disease/therapy , Goiter, Nodular/diagnosis , Goiter, Nodular/epidemiology , Goiter, Nodular/therapy , Thyroiditis/diagnosis , Thyroiditis/epidemiology , Thyroiditis/therapy , Diagnosis, Differential
19.
Am J Health Syst Pharm ; 53(19): 2277-90; quiz 2336-7, 1996 Oct 01.
Article in English | MEDLINE | ID: mdl-8893066

ABSTRACT

The chemistry, pharmacology, pharmacokinetics, and clinical efficacy of acarbose, a new antidiabetic agent, are reviewed. Acarbose reversibly inhibits intestinal alpha-glucosidases, enzymes responsible for the metabolism of complex carbohydrates into absorbable monosaccharide units. This action results in a diminished and delayed rise in blood glucose following a meal, resulting in a reduction in post-prandial hyperglycemia, area under the glucose concentration-time curve, and glycosylated hemoglobin. Other effects include a reduction in postprandial insulin and variable changes in plasma lipid concentrations. In placebo-controlled trials, acarbose caused significant improvements in glycemic control indicators, including glycosylated hemoglobin. Acarbose has demonstrated additional glycemic control when added to other antidiabetic therapies, including sulfonylureas and insulin. Efficacy of acarbose appears to be comparable to or slightly less than that of sulfonylureas or metformin, although it has not been compared with maximal dose of these agents. The most commonly reported adverse drug reactions with acarbose are abdominal pain, diarrhea, and flatulence, which tend to lessen with time. Acarbose may affect the bioavailability of metformin and may be less effective when used in conjunction with intestinal adsorbents and digestive enzyme preparations. Concurrent use with hypoglycemic agents (sulfonylureas and insulin) may cause an increased frequency of hypoglycemia. Acarbose should not be used in individuals with certain intestinal disorders, including inflammatory bowel disease. The dosage should start at 25 mg one to three times daily given with the first bite of each main meal and should be adjusted to a maximum of 50 mg three times daily for patients weighing up to 60 kg or 100 mg three times daily for heavier patients. Acarbose may be considered for first-line antidiabetic therapy in certain patients and may be useful as combination therapy in selected instances. Acarbose is efficacious in improving metabolic control in non-insulin-dependent diabetes mellitus. Further evaluation of its effects on the long-term complications of diabetes is needed.


Subject(s)
Diabetes Mellitus, Type 2/drug therapy , Glycoside Hydrolase Inhibitors , Hypoglycemic Agents/therapeutic use , Trisaccharides/therapeutic use , Acarbose , Clinical Trials as Topic , Diabetes Mellitus, Type 2/physiopathology , Drug Interactions , Humans , Hypoglycemic Agents/adverse effects , Trisaccharides/adverse effects
20.
Clin Genet ; 49(6): 318-20, 1996 Jun.
Article in English | MEDLINE | ID: mdl-8884084

ABSTRACT

We report on a patient with monosomy 18 mosaicism, a previously undescribed chromosome abnormality. The phenotype is reminiscent of chromosome 18 ring mosaicism. The reason that the patient survived may be attributed to low level mosaicism for the monosomy.


Subject(s)
Chromosomes, Human, Pair 18 , Mosaicism , Facies , Failure to Thrive/genetics , Female , Humans , In Situ Hybridization, Fluorescence , Infant, Newborn , Nystagmus, Pathologic/genetics , Optic Atrophy/genetics
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