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2.
Phys Rev Lett ; 126(17): 171801, 2021 Apr 30.
Article in English | MEDLINE | ID: mdl-33988435

ABSTRACT

We measured two-neutrino double beta decay of ^{130}Te using an exposure of 300.7 kg yr accumulated with the CUORE detector. Using a Bayesian analysis to fit simulated spectra to experimental data, it was possible to disentangle all the major background sources and precisely measure the two-neutrino contribution. The half-life is in agreement with past measurements with a strongly reduced uncertainty: T_{1/2}^{2ν}=7.71_{-0.06}^{+0.08}(stat)_{-0.15}^{+0.12}(syst)×10^{20} yr. This measurement is the most precise determination of the ^{130}Te 2νßß decay half-life to date.

3.
Phys Rev Lett ; 124(12): 122501, 2020 Mar 27.
Article in English | MEDLINE | ID: mdl-32281829

ABSTRACT

We report new results from the search for neutrinoless double-beta decay in ^{130} Te with the CUORE detector. This search benefits from a fourfold increase in exposure, lower trigger thresholds, and analysis improvements relative to our previous results. We observe a background of (1.38±0.07)×10^{-2} counts/(keV kg yr)) in the 0νßß decay region of interest and, with a total exposure of 372.5 kg yr, we attain a median exclusion sensitivity of 1.7×10^{25} yr. We find no evidence for 0νßß decay and set a 90% credibility interval Bayesian lower limit of 3.2×10^{25} yr on the ^{130} Te half-life for this process. In the hypothesis that 0νßß decay is mediated by light Majorana neutrinos, this results in an upper limit on the effective Majorana mass of 75-350 meV, depending on the nuclear matrix elements used.

5.
BJOG ; 125(5): 556-564, 2018 Apr.
Article in English | MEDLINE | ID: mdl-28755422

ABSTRACT

BACKGROUND: The development of clinical guidelines requires standardised methods informed by robust evidence synthesis. OBJECTIVES: We evaluated the methodological quality of endometriosis guidelines, mapped their recommendations, and explored the relationships between recommendations and research evidence. SEARCH STRATEGY: We searched EMBASE, MEDLINE, and PubMed from inception to February 2016. SELECTION CRITERIA: We included guidelines related to the diagnosis and management of endometriosis. DATA COLLECTION AND ANALYSIS: The search strategy identified 879 titles and abstracts. We include two international and five national guidelines. Four independent authors assessed the methodological quality of the included guidelines, using the Appraisal of Guidelines for Research & Evaluation (AGREE-II) instrument, and systematically extracted the guideline recommendations and supporting research evidence. MAIN RESULTS: One hundred and fifty-two different recommendations were made. Ten recommendations (7%) were comparable across guidelines. The European Society of Human Reproduction and Embryology was objectively evaluated as the highest quality guideline (methodological quality score: 88/100). There was substantial variation between the supporting evidence presented by individual guidelines for comparable recommendations. Forty-two recommendations (28%) were not supported by research evidence. No guideline followed the standardised guideline development methods (AGREE-II). CONCLUSIONS: There is substantial variation in the recommendations and methodological quality of endometriosis guidelines. Future guidelines should be developed with reference to high-quality methods in consultation with key stakeholders, including women with endometriosis, ensuring that their scope can truly inform clinical practice and eliminate unwarranted and unjustified variations in clinical practice. TWEETABLE ABSTRACT: #Endometriosis guidelines vary in recommendations and quality. @EndometriosisUK.


Subject(s)
Endometriosis/diagnosis , Endometriosis/therapy , Practice Guidelines as Topic/standards , Female , Humans
6.
BJOG ; 123(11): 1761-8, 2016 Oct.
Article in English | MEDLINE | ID: mdl-27173590

ABSTRACT

BACKGROUND: The development of a non-invasive and accurate diagnostic biomarker for endometriosis is urgently needed. OBJECTIVE: Evaluate the diagnostic accuracy of serum cancer antigen 125 (CA 125) for endometriosis. SEARCH STRATEGY: We searched EMBASE, MEDLINE, and Web of Science from inception to January 2016. SELECTION CRITERIA: Diagnostic accuracy studies of serum CA 125 (index test) for histologically confirmed endometriosis (reference standard) were included. DATA COLLECTION AND ANALYSIS: Two authors independently selected trials, extracted study characteristics and data. Methodological quality was assessed using Quality Assessment of Comparative Diagnostic Accuracy Studies (QUADAS-2) checklist. MAIN RESULTS: Twenty-two studies (16 cohort, six case-control), 3626 participants, were identified. Bivariate hierarchical models were used to pool accuracy data of 14 studies (2920 participants) using CA 125 ≥ 30 units/ml. Pooled specificity was 93% (95% CI 89-95%) and sensitivity 52% (95% CI 38-66%). CA 125 was significantly more sensitive for the diagnosis of moderate or severe endometriosis compared with minimal disease (63%, 95% CI 47-77% versus 24%, 95%CI 19-32%, P-value = 0.001). CONCLUSIONS: CA 125 performs well as a rule-in test facilitating expedited diagnosis and ensuring investigation and treatment can be confidently tailored for the management of endometriosis. Unfortunately, a negative test, CA 125 < 30 units/ml, is unable to rule out endometriosis. TWEETABLE ABSTRACT: Blood test CA 125: a rule-in test for the diagnosis of women presenting with symptoms of endometriosis.


Subject(s)
CA-125 Antigen/blood , Endometriosis/diagnosis , Membrane Proteins/blood , Adult , Biomarkers/blood , Female , Humans , Predictive Value of Tests , Sensitivity and Specificity
7.
Adm Policy Ment Health ; 42(1): 61-9, 2015 Jan.
Article in English | MEDLINE | ID: mdl-24659446

ABSTRACT

Staff burnout is widely believed to be problematic in mental healthcare, but few studies have linked burnout directly with quality of care. The purpose of this study was to examine the relationship between burnout and a newly developed scale for quality of care in a sample of community mental health workers (N=113). The Self-Reported Quality of Care scale had three distinct factors (Client-Centered Care, General Work Conscientiousness, and Low Errors), with good internal consistency. Burnout, particularly personal accomplishment, and to a lesser extent depersonalization, were predictive of overall self-rated Quality of Care, over and above background variables.


Subject(s)
Burnout, Professional/epidemiology , Community Mental Health Services/standards , Quality of Health Care/standards , Adult , Female , Humans , Job Satisfaction , Male , Middle Aged , Patient-Centered Care/standards , Personnel Turnover , Self Report
8.
J Clin Pathol ; 61(9): 1038-40, 2008 Sep.
Article in English | MEDLINE | ID: mdl-18552171

ABSTRACT

AIMS: The objective of this study was to determine the incidence of prostate specific antigen (PSA) relapse in patients with low volume prostate cancer following radical prostatectomy. METHODS: Between 1993 and 2001, 50 of 717 patients had total tumour volumes of less than 0.5 cm3 following radical prostatectomy. Biochemical recurrence was defined as two consecutive values of serum PSA levels of 0.2 ng/ml or greater. RESULTS: Median follow-up of the 50 patients was 58 months. In five of the 50 patients (10%), PSA recurrence was observed. All of these five cases had Gleason score of 3+3 (well and/or moderately differentiated), organ confined and surgical margin negative tumours. In three of the five cases, capsular incision resulted in benign glands extending into the surgical margin. CONCLUSIONS: Five of 50 cases had PSA failure. In three of the five patients, benign glands located in the margin could explain the "PSA recurrence". However, in the other two patients, none of the pathological parameters correlated with measurable PSA levels. The explanation for their PSA failure is unclear.


Subject(s)
Biomarkers, Tumor/blood , Prostate-Specific Antigen/blood , Prostatic Neoplasms/blood , Prostatic Neoplasms/pathology , Adult , Aged , Follow-Up Studies , Humans , Male , Middle Aged , Neoplasm Staging , Postoperative Period , Prostate/pathology , Prostatectomy , Prostatic Neoplasms/surgery , Tumor Burden
9.
J Comp Pathol ; 135(4): 190-9, 2006 Nov.
Article in English | MEDLINE | ID: mdl-17054974

ABSTRACT

One hundred canine urinary bladder urothelial (transitional cell) tumours, including roughly equal numbers of benign and malignant forms, were retrospectively categorized in accordance with the newly described human consensus classification of the World Health Organization/International Society of Urological Pathology (WHO/ISUP). The tumours were reviewed and classified by three veterinary pathologists from Michigan State University and two human pathologists from the Armed Forces Institute of Pathology (AFIP). The current human WHO/ISUP classification system was considered to be readily applicable to the dog. Canine tumours, however, differed from human tumours in that the great majority showed extensive glandular differentiation (or metaplasia) and hyperplastic lesions tended to be more florid than those seen in human beings. The various diagnoses and grades assigned to the tumours were highly consistent between all reviewing pathologists. This paper presents the salient features of the new WHO and ISUP consensus classification and provides illustrations of the various tumour types that were directly applicable to the dog.


Subject(s)
Dog Diseases/classification , Urinary Bladder Neoplasms/classification , Urinary Bladder Neoplasms/veterinary , Urothelium/pathology , Animals , Consensus , Dog Diseases/pathology , Dogs , Humans , Neoplasm Staging , Retrospective Studies , Urinary Bladder Neoplasms/pathology , World Health Organization
10.
Neuroscience ; 137(4): 1369-79, 2006.
Article in English | MEDLINE | ID: mdl-16343778

ABSTRACT

The angiotensin 4 receptor (AT4) subtype is heavily distributed in the dentate gyrus and CA1-CA3 subfields of the hippocampus. Neuronal pathways connecting these subfields are believed to be activated during learning and memory processing. ur laboratory previously demonstrated that application of the AT4 agonist, Norleucine1-angiotensin IV, enhanced baseline synaptic transmission and long-term potentiation, whereas perfusion with the AT4 antagonist, Norleucine1-Leu3-psi(CH2-NH2)3-4-angiotensin IV disrupted long-term potentiation stabilization in area CA1. The objective of the present study was to identify the mechanism(s) responsible for Norleucine1-angiotensin IV-induced increase in hippocampal long-term potentiation. Hippocampal slices perfused with Norleucine1-angiotensin IV for 20 min revealed a notable increase in baseline responses in a non-reversible manner and were blocked by the alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate receptor antagonist, 6-cyano-7-nitroquinoxaline-2,3-dione disodium salt. Infusions of Norleucine1-angiotensin IV prior to, but not after theta burst stimulation, significantly enhanced long-term potentiation compared with control slices. Further, N-methyl-D-aspartate receptor-independent long-term potentiation could be induced by tetanization during the perfusion of Norleucine1-angiotensin IV in the presence of the N-methyl-D-aspartate antagonist, D,L-2-amino-5-phosphonovaleric acid. Blockade of select voltage dependent calcium channels significantly reduced Norleucine1-angiotensin IV-induced increase in baseline responses and subsequent long-term potentiation suggesting that AT4 receptor activation increases intracellular calcium levels via altering voltage dependent calcium channels and triggers an N-methyl-D-aspartate-independent form of long-term potentiation. In support of this notion the application of Nle1-angiotensin IV to cultured rat hippocampal neurons resulted in increased intracellular calcium derived exclusively from extracellular sources. Consistent with these observations Nle1-angiotensin IV was capable of augmenting the uptake of 45Ca2+ into rat hippocampal slices. Taken together, these data indicate that increased calcium influx through postsynaptic calcium channels contribute to Norleucine1-angiotensin IV-induced enhancement of long-term potentiation.


Subject(s)
Calcium/metabolism , Hippocampus/physiology , Long-Term Potentiation/physiology , N-Methylaspartate/physiology , Receptors, Angiotensin/physiology , Animals , Biological Transport , In Vitro Techniques , Kinetics , Male , Norleucine , Rats , Rats, Sprague-Dawley , Receptors, Glutamate/physiology
11.
Nature ; 435(7043): 799-801, 2005 Jun 09.
Article in English | MEDLINE | ID: mdl-15944700

ABSTRACT

A connection between thunderstorms and the ionosphere has been hypothesized since the mid-1920s. Several mechanisms have been proposed to explain this connection, and evidence from modelling as well as various types of measurements demonstrate that lightning can interact with the lower ionosphere. It has been proposed, on the basis of a few observed events, that the ionospheric 'sporadic E' layer--transient, localized patches of relatively high electron density in the mid-ionosphere E layer, which significantly affect radio-wave propagation--can be modulated by thunderstorms, but a more formal statistical analysis is still needed. Here we identify a statistically significant intensification and descent in altitude of the mid-latitude sporadic E layer directly above thunderstorms. Because no ionospheric response to low-pressure systems without lightning is detected, we conclude that this localized intensification of the sporadic E layer can be attributed to lightning. We suggest that the co-location of lightning and ionospheric enhancement can be explained by either vertically propagating gravity waves that transfer energy from the site of lightning into the ionosphere, or vertical electrical discharge, or by a combination of these two mechanisms.

12.
Vet Pathol ; 38(6): 712-4, 2001 Nov.
Article in English | MEDLINE | ID: mdl-11732807

ABSTRACT

A 3-year-old female neutered Staffordshire Bull Terrier presented with a mixed germ cell tumor involving the base of the iris and the ciliary body of the right eye. The tumor mass was composed primarily of packeted vacuolated, polygonal (hepatoid) cells and small round cells; epithelial cells lining tubuloacinar structures were a less prominent component. The hepatoid and round cells stained positively for alpha-fetoprotein and cytokeratin. The epithelial cells stained positively for cytokeratin only, and some contained cytoplasmic mucin droplets. The polygonal cells were interpreted as a hepatoid variant of yolk sac tumor, and the epithelial cells were considered a teratomatous component. Trabeculae of bone were observed within the mass and may have been metaplastic or a teratomatous element. Extragonadal germ cell tumors are rare in dogs and have previously been reported only in the suprasellar region. This is the first report of this tumor type in the eye of a nonhuman species.


Subject(s)
Dog Diseases/pathology , Endodermal Sinus Tumor/veterinary , Eye Neoplasms/veterinary , Teratoma/veterinary , Animals , Dog Diseases/surgery , Dogs , Endodermal Sinus Tumor/pathology , Endodermal Sinus Tumor/surgery , Eye Neoplasms/pathology , Eye Neoplasms/surgery , Female , Immunohistochemistry/veterinary , Teratoma/pathology , Teratoma/surgery
13.
Pediatr Emerg Care ; 17(6): 478-81, 2001 Dec.
Article in English | MEDLINE | ID: mdl-11753200

ABSTRACT

Caring for children of adolescent parents presents unique challenges. Because adolescent parents may lack parenting skills and knowledge of medical terminology, symptoms of life-threatening illnesses may be misinterpreted. We present two cases of unexpected acute abdomen in young infants with adolescent mothers. The first case involves midgut volvulus, which was discovered during a routine newborn visit. The second case, involving pyloric stenosis, presented a clinical management challenge when the adolescent mother refused diagnostic studies.


Subject(s)
Abdomen, Acute/diagnosis , Intestinal Obstruction/diagnosis , Parenting , Pyloric Stenosis/diagnosis , Abdomen, Acute/nursing , Adolescent , Female , Humans , Infant , Infant, Newborn , Intestinal Obstruction/nursing , Intestinal Obstruction/surgery , Professional-Family Relations , Pyloric Stenosis/nursing , Pyloric Stenosis/surgery , Time Factors
14.
Org Lett ; 3(16): 2443-5, 2001 Aug 09.
Article in English | MEDLINE | ID: mdl-11483030

ABSTRACT

[structure: see text] An X-ray crystallographic study of unique hydrogen-bonded supramolecular solid-state networks comprised of a tetraarylboronic acid resorcinarene is described. When 1 is recrystallized from 9:1 MeOH:EtOH, partial esterification takes place to give compound 2, the corresponding half methyl ester, which forms an infinite two-dimensional array. Each molecule participates in 12 hydrogen bonds with other macrocycles. These hydrogen bonds are both B-OH- - - OH (phenolic) and OH (phenolic)- - -OH (phenolic).


Subject(s)
Boronic Acids/chemistry , Resorcinols/chemistry , Crystallography, X-Ray , Hydrogen Bonding , Indicators and Reagents , Models, Molecular , Molecular Conformation
15.
J Thromb Thrombolysis ; 11(2): 117-26, 2001 Apr.
Article in English | MEDLINE | ID: mdl-11406726

Subject(s)
Aspirin/therapeutic use , Coronary Disease/drug therapy , Cyclooxygenase Inhibitors/therapeutic use , Fibrinolytic Agents/therapeutic use , Platelet Aggregation Inhibitors/therapeutic use , Abciximab , Antibodies, Monoclonal/therapeutic use , Aspirin/administration & dosage , Aspirin/adverse effects , Aspirin/pharmacology , Benzamidines/therapeutic use , Clinical Trials as Topic , Clopidogrel , Cyclooxygenase Inhibitors/administration & dosage , Cyclooxygenase Inhibitors/adverse effects , Cyclooxygenase Inhibitors/pharmacology , Diabetes Complications , Dipyridamole/administration & dosage , Dipyridamole/therapeutic use , Double-Blind Method , Drug Resistance , Drug Therapy, Combination , Endothelium, Vascular/drug effects , Fibrinolytic Agents/administration & dosage , Fibrinolytic Agents/adverse effects , Fibrinolytic Agents/pharmacology , Humans , Immunoglobulin Fab Fragments/therapeutic use , Oximes/therapeutic use , Piperidines/therapeutic use , Platelet Aggregation/drug effects , Platelet Aggregation Inhibitors/administration & dosage , Platelet Aggregation Inhibitors/adverse effects , Platelet Aggregation Inhibitors/pharmacology , Platelet Glycoprotein GPIIb-IIIa Complex/antagonists & inhibitors , Prospective Studies , Randomized Controlled Trials as Topic , Stroke/prevention & control , Thrombosis/prevention & control , Thromboxane-A Synthase/antagonists & inhibitors , Ticlopidine/administration & dosage , Ticlopidine/analogs & derivatives , Ticlopidine/therapeutic use , Vasodilator Agents/administration & dosage , Vasodilator Agents/adverse effects , Vasodilator Agents/pharmacology , Vasodilator Agents/therapeutic use
16.
Ann Neurol ; 49(2): 253-7, 2001 Feb.
Article in English | MEDLINE | ID: mdl-11220746

ABSTRACT

Serum antibodies to the Yo antigen are usually associated with paraneoplastic cerebellar degeneration arising in female patients with gynecological or breast malignancy and are rarely associated with other tumors. We report a male patient who presented with paraneoplastic cerebellar degeneration and anti-Yo antibodies following removal of an esophageal adenocarcinoma. This is only the third report of anti-Yo antibodies occurring in a male patient. The Yo antigen was expressed by the esophageal tumor but not in a frontal lobe cerebral metastasis identified at postmortem. Interestingly, CD8+ T-cell infiltration was also found in the tumor, but not in the metastasis, consistent with down-regulation of Yo expression by the tumor cells leading to evasion from immune-mediated tumor surveillance.


Subject(s)
Adenocarcinoma/pathology , DNA-Binding Proteins/analysis , Esophageal Neoplasms/pathology , Neoplasm Proteins/analysis , Nerve Tissue Proteins , Paraneoplastic Cerebellar Degeneration/pathology , Autoantigens , Humans , Immunohistochemistry , Male , Middle Aged
18.
Behav Genet ; 31(6): 625-35, 2001 Nov.
Article in English | MEDLINE | ID: mdl-11838539

ABSTRACT

Children with reading deficits perform more slowly than normally-achieving readers on speed of processing measures, such as rapid naming (RN). Although rapid naming is a well-established correlate of reading performance and both are heritable, few studies have attempted to assess the cause of their covariation. Measures of rapid naming (numbers, colors, objects, and letters subtests), phonological decoding, orthographic choice, and a composite variable (DISCR) derived from the reading recognition, reading comprehension, and spelling subtests of the Peabody Individual Achievement Test were obtained from a total of 550 twin pairs with a positive school history of reading problems. Basic DeFries and Fulker (DF) multiple regression models for the analysis of selected twin data confirmed the heritable nature of phonological decoding, orthographic choice, DISCR, and rapid-naming composites. Bivariate DF models were employed to examine the extent to which deficits in the three reading-related measures covary genetically with rapid naming. Significant bivariate heritability estimates for each of the reading measures with the numbers and letters rapid-naming composite were also obtained. As expected, univariate sib-pair linkage analyses indicated the presence of a quantitative trait locus (QTL) on chromosome 6p21.3 for phonological decoding and orthographic choice deficits. Bivariate linkage analyses were then conducted to test the hypothesis that this QTL for reading difficulties is pleiotropic for slower performance on RN tasks. The results obtained from these analyses did not provide substantial evidence that the 6p QTL for reading difficulties has significant effects on rapid naming; however, larger samples would be required to test this hypothesis more rigorously.


Subject(s)
Anomia/genetics , Diseases in Twins , Dyslexia/genetics , Reaction Time/genetics , Adolescent , Child , Chromosomes, Human, Pair 6 , Female , Genetic Markers/genetics , Humans , Intelligence/genetics , Male , Phenotype , Phonetics , Quantitative Trait, Heritable , Regression Analysis
19.
Am J Surg Pathol ; 24(11): 1524-30, 2000 Nov.
Article in English | MEDLINE | ID: mdl-11075854

ABSTRACT

This study details the clinicopathologic and immunohistochemical features associated with 10 cases of a distinctive myointimal proliferation involving the corpus spongiosum of the glans penis. Patients ranged in age from 2 to 61 years old (mean age, 29 yrs) and presented with a mass that varied in size from 0.5 to 1.9 cm in greatest dimension. The process was said to be present from 4 days to more than 6 months before surgical intervention. In each case, microscopic examination revealed almost identical histology. There was a prominent, often occlusive, fibrointimal proliferation with plexiform architecture involving the vasculature of the corpus spongiosum. The proliferation consisted of stellate-shaped and spindled cells embedded in abundant fibromyxoid matrix. Occasional lesional cells had well-developed myoid characteristics with moderately abundant eosinophilic cytoplasm, blunt-ended nuclei, and juxtanuclear vacuoles. Foci with degenerative changes, including "ghost cell" morphology, were also present. The myointimal process was extensively immunoreactive for alpha-smooth muscle actin, muscle-specific actin (HHF-35), and calponin, but it was minimally reactive for the D33 and D-ER-11 desmin clones. In contrast, native vascular smooth muscle encompassing the proliferation was strongly immunoreactive for all five markers. The myointimal cells were nonreactive for CD34, S-100 protein, and keratin. Factor VIIIrAg, CD31, and CD34 highlighted intact endothelial cells lining suboccluded vessels, scattered capillaries that penetrated the proliferation, and the normal uninvolved vasculature. The examined specimens were punch, incisional, or excisional biopsies, and in each instance, the process microscopically extended to the tissue margin. Follow-up data are available for 8 cases (median follow-up interval, 5 yrs 8 mos): one incompletely excised lesion with 6 months follow-up is stable but persistent, one lesion with 10 years follow-up regressed spontaneously after a punch biopsy, and the remaining six lesions have not recurred. A differential diagnosis of myofibroma, late-stage intravascular (nodular) fasciitis, vascular leiomyoma, and plexiform fibrohistiocytic tumor is discussed.


Subject(s)
Muscle Neoplasms/pathology , Muscle, Smooth, Vascular/pathology , Myofibromatosis/pathology , Penile Neoplasms/pathology , Penis/blood supply , Tunica Intima/pathology , Adult , Biomarkers/analysis , Child, Preschool , Diagnosis, Differential , Follow-Up Studies , Humans , Immunoenzyme Techniques , Male , Middle Aged , Muscle Neoplasms/chemistry , Muscle Neoplasms/surgery , Muscle, Smooth, Vascular/chemistry , Muscle, Smooth, Vascular/surgery , Myofibromatosis/surgery , Neoplasm Proteins/analysis , Penile Neoplasms/chemistry , Penile Neoplasms/diagnosis , Penile Neoplasms/surgery , Tunica Intima/chemistry , Tunica Intima/surgery
20.
Hum Reprod ; 15(11): 2418-22, 2000 Nov.
Article in English | MEDLINE | ID: mdl-11056145

ABSTRACT

Premature ovarian failure (POF) is defined as ovarian failure occurring before the age of 40 years. A genetic aetiology is suggested by the occurrence of families with two or more affected females. We have characterised the pattern of inheritance of 41 cases of familial POF and compared them to published pedigrees. In eleven families a clear genetic association of POF could be identified. In the remaining 30 families the mechanism of inheritance was obscure. We found a female sex preponderance in the siblings of 30 families with idiopathic POF and in previously published series of idiopathic familial POF. In contrast, other known causes of POF, such as blepharophimosis ptosis epicanthus and inversus and autosomal recessive gonadal dysgenesis, had no altered sex ratio. One of our series of 30 pedigrees demonstrated transmission of POF susceptibility through fathers, which we believe is the first to be described in the literature. We present a group of five consanguineous families where we assume the mode of inheritance is autosomal recessive and where there was no female sex preponderance. Female sex preponderance for idiopathic familial POF suggests an X chromosome defect is inherited as a major cause of ovarian failure.


Subject(s)
Primary Ovarian Insufficiency/genetics , Sex Ratio , X Chromosome/genetics , Chromosome Aberrations/genetics , Chromosome Disorders , Consanguinity , Female , Humans , Pedigree
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