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1.
AIDS Care ; 35(11): 1741-1748, 2023 11.
Artículo en Inglés | MEDLINE | ID: mdl-36912767

RESUMEN

Evidence suggests adverse health effects from vaporized nicotine (VN) use, such as electronic "e" cigarettes, and limited efficacy to aid tobacco cessation. People with HIV (PWH) smoke tobacco at higher rates than the general population, with greater morbidity, highlighting the necessity of effective tobacco cessation tools. PWH may be more vulnerable to adverse effects of VN. Using semi-structured 1:1 interviews, we examined health beliefs regarding VN, patterns of use, and perceived effectiveness for tobacco cessation among PWH in HIV care at three geographically diverse U.S. sites. PWH (n = 24) had limited understanding of VN product content or health effects, presuming VN less harmful than tobacco cigarettes (TC). VN failed to adequately replicate the psychoactive effects or desired ritual of smoking TC. Concurrent TC use, and continuous VN use throughout the day, was common. Satiety using VN was elusive, and consumption quantity was difficult to track. VN had limited desirability and durability as a TC cessation tool among the interviewed PWH.


Asunto(s)
Infecciones por VIH , Cese del Hábito de Fumar , Humanos , Nicotina , Dispositivos para Dejar de Fumar Tabaco/efectos adversos , Infecciones por VIH/tratamiento farmacológico , Infecciones por VIH/etiología , Estado de Salud , Fumar/efectos adversos , Fumar/epidemiología
2.
AIDS Care ; 33(9): 1178-1188, 2021 09.
Artículo en Inglés | MEDLINE | ID: mdl-33443445

RESUMEN

Social support (SS) predicts health outcomes among patients living with HIV. We administered a brief, validated measure of SS, the Multifactoral Assessment of Perceived Social Support, within a patient-reported outcomes assessment of health domains in HIV care at 4 U.S. clinics in English and Spanish (n = 708). In univariate analysis, low SS was associated with poorer engagement in care, antiretroviral adherence, and health-related quality of life; current methamphetamine/crystal use, depression, anxiety, and HIV stigma (all p < 0.001); any use of either methamphetamines/crystal, illicit opioids, or cocaine/crack (p = 0.001), current marijuana use (p = 0.012), nicotine use (p = 0.005), and concern for sexually transmitted infection exposure (p = 0.001). High SS was associated with undetectable viral load (p = 0.031). Multivariate analyses found low SS independently associated with depression (risk ratio (RR) 3.72, 95% CI 2.93-4.72), lower adherence (RR 0.76, 95% CI 0.64-0.89), poor engagement in care (RR 2.05, 95% CI 1.44-2.96), and having more symptoms (RR 2.29, 95% CI 1.92-2.75). Medium SS was independently associated with depression (RR 2.59, 95% CI 2.00-3.36), poor engagement in care (RR 1.62, 95% CI 1.15-2.29) and having more symptoms (RR 1.75, 95% CI 1.44-2.13). SS assessment may help identify patients at risk for these outcomes.


Asunto(s)
Infecciones por VIH , Calidad de Vida , Antirretrovirales/uso terapéutico , Infecciones por VIH/tratamiento farmacológico , Humanos , Estigma Social , Apoyo Social
3.
AIDS Care ; 33(9): 1167-1177, 2021 09.
Artículo en Inglés | MEDLINE | ID: mdl-33190523

RESUMEN

We assessed acceptability/usability of tablet-based patient-reported outcome (PRO) assessments among patients in HIV care, and relationships with health outcomes using a modified Acceptability E-Scale (AES) within a self-administered PRO assessment. Using multivariable linear regression, we measured associations between patient characteristics and continuous combined AES score. Among 786 patients (median age=48; 91% male; 49% white; 17% Spanish-speaking) overall mean score was 26/30 points (SD: 4.4). Mean scores per dimension (max 5, 1=lowest acceptability, 5=highest): ease of use 4.7, understandability 4.7, time burden 4.3, overall satisfaction 4.3, helpfulness describing symptoms/behaviors 4.2, and enjoyability 3.8. Higher overall score was associated with race/ethnicity (+1.3 points/African-American patients (95%CI:0.3-2.3); +1.6 points/Latino patients (95%CI:0.9-2.3) compared to white patients). Patients completing PROs in Spanish scored +2.4 points on average (95%CI:1.6-3.3). Higher acceptability was associated with better quality of life (0.3 points (95%CI:0.2-0.5)) and adherence (0.4 points (95%CI:0.2-0.6)). Lower acceptability was associated with: higher depression symptoms (-0.9 points (95%CI:-1.4 to -0.4)); recent illicit opioid use (-2.0 points (95%CI:-3.9 to -0.2)); multiple recent sex partners (-0.8 points (95%CI:-1.5 to -0.1)). While patients endorsing depression symptoms, recent opioid use, condomless sex, or multiple sex partners found PROs less acceptable, overall, patients found the assessments highly acceptable and easy to use.


Asunto(s)
Infecciones por VIH , Calidad de Vida , Electrónica , Femenino , Infecciones por VIH/tratamiento farmacológico , Conductas Relacionadas con la Salud , Humanos , Masculino , Persona de Mediana Edad , Medición de Resultados Informados por el Paciente
4.
BMC Public Health ; 21(1): 1824, 2021 10 09.
Artículo en Inglés | MEDLINE | ID: mdl-34627181

RESUMEN

BACKGROUND: Among people living with HIV (PLWH), physical intimate partner violence (IPV) is associated with poor virologic, psychiatric, and behavioral outcomes. We examined non-physical, psychological intimate partner violence (psy-IPV) and HIV care outcomes using data from two U.S. consortia. METHODS: We conducted multivariable analyses with robust standard errors to compare patients indicating/not indicating psy-IPV. RESULTS: Among PLWH (n = 5950), 9.5% indicated psy-IPV; these individuals were younger (- 3; 95% CI [- 2,-4], p-value < 0.001), less likely to be on antiretroviral treatment (ART) (0.73 [0.55,0.97], p = 0.03), less adherent to ART (- 4.2 [- 5.9,-2.4], p < 0.001), had higher odds of detectable viral load (1.43 [1.15,1.78], p = 0.001) and depression (2.63 [2.18,3.18], p < 0.001), and greater use of methamphetamines/crystal [2.98 (2.30,3.87),p < 0.001], cocaine/crack [1.57 (1.24,1.99),p < 0.001], illicit opioids [1.56 (1.13,2.16),p = 0.007], and marijuana [1.40 (1.15,1.70), p < 0.001]. CONCLUSION: Psychological IPV, even in the absence of physical or sexual IPV, appears to be associated with HIV care outcomes and should be included in IPV measures integrated into routine HIV care.


Asunto(s)
Infecciones por VIH , Violencia de Pareja , Antirretrovirales/uso terapéutico , Estudios Transversales , Infecciones por VIH/tratamiento farmacológico , Infecciones por VIH/epidemiología , Humanos , Prevalencia , Parejas Sexuales , Carga Viral
5.
BMC Public Health ; 21(1): 2002, 2021 11 04.
Artículo en Inglés | MEDLINE | ID: mdl-34736425

RESUMEN

BACKGROUND: We analyzed the association between substance use (SU) and condomless sex (CS) among HIV-negative adults reporting heterosexual sex in the Seek, Test, Treat, and Retain (STTR) consortium. We describe the impact of SU as well as person/partner and context-related factors on CS, identifying combinations of factors that indicate the highest likelihood of CS. METHODS: We analyzed data from four US-based STTR studies to examine the effect of SU on CS using two SU exposures: 1) recent SU (within 3 months) and 2) SU before/during sex. Behavioral data were collected via 1:1 or self-administered computerized interviews. Adjusted individual-study, multivariable relative risk regression was used to examine the relationship between CS and SU. We also examined interactions with type of sex and partner HIV status. Pooled effect estimates were calculated using traditional fixed-effects meta-analysis. We analyzed data for recent SU (n = 6781; 82% men, median age = 33 years) and SU before/during sex (n = 2915; 69% men, median age = 40 years). RESULTS: For both exposure classifications, any SU other than cannabis increased the likelihood of CS relative to non-SU (8-16%, p-values< 0.001). In the recent SU group, however, polysubstance use did not increase the likelihood of CS compared to single-substance use. Cannabis use did not increase the likelihood of CS, regardless of frequency of use. Type of sex was associated with CS; those reporting vaginal and anal sex had a higher likelihood of CS compared to vaginal sex only for both exposure classifications (18-21%, p < 0.001). Recent SU increased likelihood of CS among those reporting vaginal sex only (9-10%, p < 0.001); results were similar for those reporting vaginal and anal sex (5-8%, p < 0.01). SU before/during sex increased the likelihood of CS among those reporting vaginal sex only (20%; p < 0.001) and among those reporting vaginal and anal sex (7%; p = 0.002). Single- and poly-SU before/during sex increased the likelihood of CS for those with exclusively HIV-negative partners (7-8%, p ≤ 0.02), and for those reporting HIV-negative and HIV-status unknown partners (9-13%, p ≤ 0.03). CONCLUSION: Except for cannabis, any SU increased the likelihood of CS. CS was associated with having perceived HIV-negative partners and with having had both anal/vaginal sex.


Asunto(s)
Infecciones por VIH , Trastornos Relacionados con Sustancias , Adulto , Condones , Femenino , Infecciones por VIH/epidemiología , Heterosexualidad , Homosexualidad Masculina , Humanos , Masculino , Asunción de Riesgos , Conducta Sexual , Parejas Sexuales , Trastornos Relacionados con Sustancias/epidemiología , Sexo Inseguro
6.
J Gen Intern Med ; 33(12): 2163-2170, 2018 12.
Artículo en Inglés | MEDLINE | ID: mdl-30251213

RESUMEN

INTRODUCTION: Rates of sexually transmitted infection (STI) are rising in the USA, yet STI risk remains under-addressed by providers, even in HIV care, and with high-risk patients. We interviewed primary care patients living with and without HIV regarding circumstances surrounding sexual risk behavior to identify opportunities for providers to address and reduce STI risk. METHODS: We conducted semi-structured 1:1 interviews with patients living with and without HIV reporting ≥ 1 sex partner and varying STI exposure risk in the past 12 months from four geographically diverse US HIV and primary care clinics. We audio-recorded, transcribed, and coded interviews by circumstance type, using double-coding to ensure inter-coder reliability. We used Fisher's exact and T tests to determine associations with demographic/risk factors. RESULTS: Patients (n = 91) identified a mean of 3 of 11 circumstances. These included substance use (54%), desire for physical/emotional intimacy (48%), lack of HIV/STI status disclosure (44%), psychological drivers (i.e., coping, depression; 38%), personal dislike of condoms (22%), partner condom dislike/refusal (19%), receiving payment for sex (13%), and condom unavailability (9%). Higher proportions of those who were high STI-exposure risk patients, defined as those with ≥ 2 sex partners in the past 3 months reporting never or sometimes using condoms, reported disliking condoms (p = .006); higher proportions of the high-risk and moderate-risk (≥ 2 partners and condom use "most of the time") groups reported substance use as a circumstance (p = .04). CONCLUSION: Circumstances surrounding perceived STI exposure risk were diverse, often overlapping, and dependent on internal, environmental, and partner-related factors and inadequate communication. Meaningful care-based interventions regarding HIV/STI transmission behavior must address the diversity and interplay of these factors.


Asunto(s)
Infecciones por VIH/psicología , Atención Primaria de Salud , Asunción de Riesgos , Conducta Sexual/psicología , Trastornos Relacionados con Sustancias/psicología , Adulto , Femenino , Infecciones por VIH/epidemiología , Humanos , Masculino , Persona de Mediana Edad , Factores de Riesgo , Trastornos Relacionados con Sustancias/epidemiología
7.
Res Social Adm Pharm ; 15(9): 1168-1176, 2019 09.
Artículo en Inglés | MEDLINE | ID: mdl-30327183

RESUMEN

BACKGROUND: Providers are often unaware of poor adherence to prescribed medications for their patients with chronic diseases. OBJECTIVE: To develop brief, computer-administered patient-reported measures in English and Spanish assessing adherence behaviors and barriers. Design, Participants, and Main Measures: Item pools were constructed from existing measures of medication adherence behaviors and barriers, which informed development of a patient concept elicitation interview guide to identify medication adherence behavior and barrier-related concepts. Two hundred six patients either living with HIV (PLWH) or without were interviewed. Interviews were coded, concepts matched to item pool content, and new items were developed for novel concepts. A provider/investigator team highlighted clinically relevant items. Cognitive interviews were conducted with patients on final candidate items (n = 37). The instruments were administered to 2081 PLWH. KEY RESULTS: Behavioral themes from concept elicitation interviews included routines incorporating time of day, placement, visual cues, and intentionality to miss or skip doses. Barrier themes included health-related (e.g. depressed mood, feeling ill), attitudes/beliefs (e.g., need for medication), access (e.g., cost/insurance problems), and circumstantial barriers (e.g., lack of privacy, disruption of daily routine). The final instruments included 6 behavior items, and 1 barrier item with up to 23 response options. PLWH endorsed a mean (SD) of 3.5 (1.1) behaviors. The 201 PLWH who missed ≥2 doses in the previous week endorsed a mean (SD) of 3.1 (2.5) barriers. The intraclass correlation coefficient (ICC) for the numbers of behaviors endorsed in 61 PLWH after 4-16 days was 0.54 and for the number of barriers for the 20 PLWH with ≥2 missed doses the ICC was 0.89, representing fair and excellent test-retest reliability. CONCLUSION: Measures of medication adherence behaviors and barriers were developed for use with patients living with chronic diseases focusing on clinical relevance, brevity, and content validity for use in clinical care.


Asunto(s)
Enfermedad Crónica/tratamiento farmacológico , Infecciones por VIH/tratamiento farmacológico , Cumplimiento de la Medicación/estadística & datos numéricos , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Autoinforme
8.
Res Social Adm Pharm ; 14(6): 540-544, 2018 06.
Artículo en Inglés | MEDLINE | ID: mdl-28651924

RESUMEN

BACKGROUND: Low health literacy is associated with poor medication adherence and poor health outcomes. Limited understanding of prescribed medications may decrease validity of patient-reported adherence measures. OBJECTIVES: To assess knowledge of names and purposes of prescribed medications among patients with multiple chronic conditions. METHODS: Individual interviews were conducted with a convenience sample of patients from six U.S. primary care clinics. Participants (n = 57) were English and/or Spanish-speaking patients prescribed 3+ medications for chronic conditions, for which non-adherence may lead to disability or death. In individual interviews, patients were asked to name their medications, explain the purpose of each, and to explain how they distinguish them from one another. Interviews were audio recorded, transcribed, and coded; coded content was quantified by 1) whether or not the patient could name medications; 2) method of categorizing medications; 3) whether or not the purpose of the medication was understood. Descriptive statistics were compiled using Fisher's exact test to determine the relationship between patient knowledge and medication characteristics. RESULTS: Thirty percent of patients could not name at least one of their medications; 19% did not know their purpose; 30% held misconceptions about the purpose of one or more medications. There was no significant difference in ability to name medications or state their medication's purpose between patients using medi-sets, pre-packaged rolls, or blister packs, and patients who stored pills in their original containers (p = 0.56 and p = 0.73, respectively), or across demographic groups (p = 0.085 to 0.767). CONCLUSIONS: Many patients demonstrated difficulty identifying the name and purpose of prescribed medications; this did not differ by demographic group or medication storage type. Patients may benefit from routine review of medications with their provider in order to improve health literacy, outcomes, and patient-reported adherence measurement.


Asunto(s)
Alfabetización en Salud/estadística & datos numéricos , Cumplimiento de la Medicación , Afecciones Crónicas Múltiples/tratamiento farmacológico , Adulto , Anciano , Femenino , Infecciones por VIH/tratamiento farmacológico , Humanos , Masculino , Persona de Mediana Edad , Atención Primaria de Salud , Estados Unidos
9.
Clin Oncol (R Coll Radiol) ; 10(2): 107-14, 1998.
Artículo en Inglés | MEDLINE | ID: mdl-9610900

RESUMEN

This study was intended to ascertain whether the adjunctive administration of filgrastim (r metHuG-CSF, Amgen) would influence the dose intensity of chemotherapy or the morbidity of myelosuppression in patients receiving MOPP or MOPP/EVAP hybrid chemotherapy for Hodgkin's disease. In a prospective randomized trial, two regimens for the treatment of Hodgkin's disease were compared. The substudy described here randomized patients receiving either regimen to receive filgrastim on the days when chemotherapy was not administered. During chemotherapy, parameters of myelosuppression were documented, including dose delays, the severity and duration of neutrophil and platelet nadirs, infective episodes, and resulting hospital admissions. In the MOPP arm, 13/25 eligible patients, and, in the MOPP/EVAP arm, 12/22 eligible patients, received filgrastim. The use of filgrastim made no statistically significant difference to the administered dose intensity for either MOPP (P = 0.57, 95% confidence interval (CI) 15-point increase to 8-point reduction) or MOPP/EVAP (P = 0.53; 95% CI 7-point increase to 11-point reduction). In patients receiving MOPP, filgrastim reduced the median duration of leucopenia (P = 0.007) and the severity of the white blood cell nadir (P = 0.036); however, no statistically significant effect (at the 5% level) was seen in platelet or haemoglobin nadirs, the number of days of in-patient hospitalization, the number of admissions for infective complications, the incidence, grade or duration of infections, or the incidence of febrile neutropenia. In patients receiving MOPP/EVAP, filgrastim had no significant effect on the duration or depth of leucopenia but was associated with a reduction in the median haemoglobin (P = 0.002) and platelet nadirs (P = 0.015). No effect on the above listed sequelae of myelosuppression was influenced by the administration of filgrastim. This study, although small, suggests that the routine use of filgrastim, aimed at influencing the administered dose intensity of conventional dose chemotherapy in Hodgkin's disease, is not warranted.


Asunto(s)
Protocolos de Quimioterapia Combinada Antineoplásica/administración & dosificación , Protocolos de Quimioterapia Combinada Antineoplásica/efectos adversos , Médula Ósea/efectos de los fármacos , Factor Estimulante de Colonias de Granulocitos/uso terapéutico , Enfermedad de Hodgkin/tratamiento farmacológico , Leucopenia/tratamiento farmacológico , Adolescente , Adulto , Anciano , Quimioterapia Adyuvante , Doxorrubicina/administración & dosificación , Etopósido/administración & dosificación , Femenino , Filgrastim , Humanos , Incidencia , Recuento de Leucocitos/efectos de los fármacos , Leucopenia/inducido químicamente , Masculino , Mecloretamina/administración & dosificación , Persona de Mediana Edad , Recuento de Plaquetas/efectos de los fármacos , Prednisona/administración & dosificación , Procarbazina/administración & dosificación , Estudios Prospectivos , Proteínas Recombinantes , Resultado del Tratamiento , Vinblastina/administración & dosificación , Vincristina/administración & dosificación
14.
Arch Fam Med ; 7(1): 88-90, 1998.
Artículo en Inglés | MEDLINE | ID: mdl-9443706

RESUMEN

Our research indicates that infant head molding, the application of pressure or bindings to cranial bones to alter their shapes, is prevalent among various Caribbean, Latino, European, African American, Asian, and Native American groups. The data emerged during a cross-cultural anthropological study of child care practices. The documentation of the practice of intentional infant cranial molding, specifically during the first year after birth, has far-reaching implications, particularly for those medical personnel assessing children with dysmorphic crania suggestive of idiopathic craniosynostosis and craniostenosis.


Asunto(s)
Cultura , Cabeza , Cráneo , Adulto , Anciano , Anciano de 80 o más Años , Antropología , Belleza , Femenino , Salud , Humanos , Lactante , Recién Nacido , Inteligencia , Masculino , Persona de Mediana Edad
15.
J Med Genet ; 21(4): 281-5, 1984 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-6492093

RESUMEN

The three English families in this report have a total of 21 members (16 females and five males) suffering from chronic hidradenitis suppurativa. In family A the condition is associated with acne conglobata and there is vertical transmission of the disorder through three generations. In the others there is no associated cystic acne, but all those affected had a history of acne vulgaris with comedone formation, and the condition has been confirmed in two generations. It is likely that a male in an earlier generation in family B suffered from the disease and affected sibs in family C were born to different fathers. The familial aggregation and number of affected subjects suggests a single gene disorder and the pattern of transmission is consistent with autosomal dominant inheritance. Males and females are affected in successive generations and there is the anticipated variation in clinical severity in those suffering from the condition.


Asunto(s)
Enfermedades de las Glándulas Sudoríparas/genética , Adolescente , Adulto , Glándulas Apocrinas/patología , Femenino , Humanos , Masculino , Linaje , Supuración , Enfermedades de las Glándulas Sudoríparas/patología
16.
Br J Dermatol ; 113(1): 1-8, 1985 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-4015966

RESUMEN

Twenty-six probands suffering from hidradenitis suppurativa were identified from Hospital Activity Analysis (H.A.A.) records for the period 1980-83 and by direct referral from hospital specialists over a 6-month period in 1983-84. Investigation of their families eventually confirmed a total of 62 affected individuals from 23 families. In II families there was evidence in favour of single gene or Mendelian inheritance; in another three there was familial occurrence; in nine families there was a negative family history at the time of enquiry. The disease appears to be commoner than reports suggest and it is probable that there is an underestimation of affected individuals in our community. Problems of identification including variable age of onset and psycho-social factors were found and may be responsible for false-negative family histories.


Asunto(s)
Glándulas Apocrinas , Enfermedades de las Glándulas Sudoríparas/genética , Glándulas Sudoríparas , Femenino , Humanos , Inflamación/genética , Masculino , Linaje
17.
Gastroenterology ; 105(2): 500-6, 1993 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-8335204

RESUMEN

BACKGROUND: In acute porphyria, repletion of intrahepatic heme, with exogenously administered heme, suppresses the overproduction of delta-aminolaevulinic acid (ALA) and porphobilinogen (PBG). The effect of reducing heme breakdown has been assessed by administering tin protoporphyrin, a competitive inhibitor of heme oxygenase. METHODS: The effect of tin protoporphyrin, 1 mumol/kg, and heme arginate, 3 mg/kg, individually and combined was compared with placebo in patients with an acute porphyric crisis. The treatments were given by intravenous infusion on three successive mornings. Thirty-four attacks were studied in 8 patients (9 placebo, 10 heme arginate alone, 4 tin protoporphyrin alone, and 11 combination treatments). RESULTS: Placebo and tin protoporphyrin alone had little effect on ALA and PBG excretion. Following heme arginate alone or combined with tin protoporphyrin, there was a marked and similar suppression of both ALA and PBG excretion (P < 0.005 for each, compared with pretreatment values). However, on the 5th day after discontinuing treatment, the excretion of ALA and PBG were both lower following combination therapy than following heme arginate alone (P < 0.005 and P < 0.01, respectively). CONCLUSIONS: These findings suggest that inhibition of heme oxygenase by tin protoporphyrin prolongs the biochemical remission induced by heme arginate in the porphyric crisis.


Asunto(s)
Arginina/uso terapéutico , Hemo/uso terapéutico , Metaloporfirinas/uso terapéutico , Porfirias Hepáticas/tratamiento farmacológico , Protoporfirinas/uso terapéutico , Enfermedad Aguda , Adulto , Arginina/efectos adversos , Sinergismo Farmacológico , Quimioterapia Combinada , Femenino , Hemo/efectos adversos , Humanos , Masculino , Metaloporfirinas/efectos adversos , Porfirias Hepáticas/metabolismo , Protoporfirinas/efectos adversos
18.
Clin Genet ; 23(4): 329-35, 1983 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-6221837

RESUMEN

We report a Caucasian family in which four males out of a total of seven siblings are mentally retarded. Three of the affected individuals have spasticity in the lower limbs (spastic paraplegia), pes cavus deformity of both feet and an abnormal gait. In addition, they show palmar and plantar hyperkeratosis. The other male sibling does not have spasticity, but his lower limb reflexes are abnormally brisk and he has slight pes cavus deformity. He also shows hyperkeratosis of his palms and soles and is less mentally retarded that his brothers. The mother of the affected boys has normal intelligence, but has plantar hyperkeratosis and a strong facial resemblance to her retarded sons. Her three daughters are normal. The pedigree information is compatible with a sex-linked mode of inheritance and no specific biochemical or cytogenetic abnormality has been found in the affected individuals. There have been no previous reports of hyperkeratosis palmaris et plantaris in other inherited spastic syndromes.


Asunto(s)
Discapacidad Intelectual/genética , Queratodermia Palmoplantar/genética , Paraplejía/genética , Adolescente , Adulto , Humanos , Masculino , Espasticidad Muscular/genética , Linaje , Síndrome
19.
Clin Genet ; 22(4): 195-205, 1982 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-7151303

RESUMEN

Fronto-metaphyseal dysplasia is a rare but clinically striking condition characterized by skeletal and other abnormalities. Typical clinical and radiological features of the disease were present in four individuals in the family in this report. One of these, a male, had an obstructive uropathy at birth, making this the fourth male reported with fronto-metaphyseal dysplasia and an associated renal abnormality. In addition, he had severe congenital stridor associated with sub-glottic narrowing of the trachea. His affected sister also had severe congenital stridor associated with sub-glottic stenosis and a tracheal web. Both children had recurrent respiratory tract infection requiring frequent hospital admission. Respiratory problems have been reported in several other individuals with fronto-metaphyseal dysplasia and it would appear that renal and respiratory tract abnormalities are part of the syndrome. Although sex-linked inheritance has been considered the most likely mode of transmission of the disease, the segregation and clinical severity of the condition in this family could be equally well explained on the basis of dominant inheritance with varying expressivity.


Asunto(s)
Anomalías Múltiples/genética , Riñón/anomalías , Esqueleto/anomalías , Adulto , Anciano , Femenino , Humanos , Recién Nacido , Masculino , Persona de Mediana Edad , Linaje , Ruidos Respiratorios/etiología , Síndrome
20.
J Med Genet ; 19(2): 141-3, 1982 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-7077625

RESUMEN

We report a female infant with the Majewski syndrome, one of a group of conditions characterised by short ribs, polydactyly, dwarfism, and early neonatal death. This syndrome seems to be extremely rare, with only five well documented cases reported and, including this case, nine recorded in all. The Majewski syndrome is considered to be recessively inherited, and this report adds further support to this hypothesis, as the infant was born to consanguineous parents.


Asunto(s)
Anomalías Múltiples/genética , Consanguinidad , Genes Recesivos , Anomalías Múltiples/clasificación , Adulto , Enanismo/genética , Femenino , Dedos/anomalías , Humanos , Recién Nacido , Costillas/anomalías , Síndrome , Dedos del Pie/anomalías
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