The changes in sleep architecture found in patients with AD occur during the preclinical phase of AD. [31] These changes could be used to detect those most at risk of developing AD. [31] However, this is still only theoretical. Although the exact mechanisms and the causal relationship between sleep disturbances and AD are not yet clear, these findings already provide a better understanding. ... Current Sleep Medicine Reports, 1(2), 81-90. ^ a b Bjørnarå, K., Dietrichs, E., & Toft, M. (2015). ... Hershey, PA: Medical Information Science Reference. ^ a b c d e f g h i j k l m n o p q r s t u v w x y z aa ab ac adae af ag ah ai aj ak al am an Kent, Brianne A.; Mistlberger, Ralph E. (2017-04-01). ... "Insomnia and Hypersomnia Associated with Depressive Phenomenology and Comorbidity in Childhood Depression" . Sleep . 30 (1): 83–90. doi : 10.1093/sleep/30.1.83 . ISSN 1550-9109 .
There may be a gap of a few months to 2 to 3 years from the time of initial infection to the point of diagnosis. [4] [5] [6] Spina ventosa is the term given for tuberculous dactylitis. [7] Nearly 85% of the patients of spina ventosa are below 6 years of age.The bones of hands are more commonly involved than those of the feet. ... Stockholm: Wahlström & widstrand. p. 131. ISBN 91-46-13190-6 . ^ Subasi, M; Bukte, Y; Kapukaya, A; Gurkan, F (2004). ... Journal of Hand Surgery (Edinburgh, Scotland) . 19 (2): 234–7. doi : 10.1016/0266-7681(94)90175-9 . PMID 8014559 . S2CID 39092144 . ^ Cremin, B. ... Childhood Tuberculosis: Modern Imaging and Clinical Concepts . London: Springer-Verla. p. 99. doi : 10.1007/978-1-4471-3011-6_6 . ... Journal of Hand Surgery (Edinburgh, Scotland) . 16 (2): 202–3. doi : 10.1016/0266-7681(91)90177-P . PMID 2061665 . S2CID 10289363 .
The patient's erythrocyte cytochrome b5 levels were about 25% of those found in other family members. Polyacrylamide gel electrophoresis of cytochrome b5 from the patient and family members demonstrated no differences in mobility. ... Biochemical Features Laboratory studies of the patient reported by Hegesh et al. (1986) showed that adding the cofactor cytochrome b5 restored methemoglobin reductase activity. Cytochrome b5 was very low in the patient's red cells but was normal in the healthy unrelated parents and in the sibs. ... The findings in this patient provided confirmation for the conclusion of Hultquist and Passon (1971) that cytochrome b5 is required for methemoglobin reduction in vivo.
RCM type 4 is a very rare disease associated with chronic cyanosis caused by mutations in the CYB5A gene (18q23) encoding cytochrome b5. In addition, there have been two reports of NADPH reductase deficiency, but in one case (identified though an inability to metabolize methylene blue) methemoglobinemia was not present suggesting that this pathway has limited physiological importance. ... Etiology RCM type 1 is caused by mutations of the CYB5R3 gene (22q13.31-qter) encoding the NADH-cytochrome b5 reductase (Cb5R) and Cb5R deficiency is limited to the erythrocytes.
See also autosomal recessive methemoglobinemia type IV (250790), which is caused by mutation in the cytochrome b5 gene (CYB5A; 613218). Type III has been withdrawn (see below and Nagai et al., 1993). ... The neurologic symptoms may be related to the major role played by the cytochrome b5 system in the desaturation of fatty acids (Vives-Corrons et al., 1978; Kaplan et al., 1979). ... Methemoglobinemia Type I Tanishima et al. (1985) reported 2 Japanese brothers, born of consanguineous parents, with hereditary methemoglobinemia due to cytochrome b5 reductase deficiency. Katsube et al. (1991) provided follow-up of this family. ... Following up on an observation of an unusually high proportion of Algerian subjects among patients with methemoglobinemia, Reghis et al. (1981) did a population survey of red cell cytochrome b5 reductase in 1,000 Algerian subjects. ... Nomenclature Jaffe (1987) stated that the enzyme can be called cytochrome b5 reductase (dropping the NADH prefix) and the disorder can be called 'enzymopenic methemoglobinemia.'
Clinical Features Sass et al. (1967) found a black male with deficiency of NADPH (TPNH)-methemoglobin reductase, also known as NADPH-reductase and biliverdin reductase B (BLVRB; 600941). The case was detected when the patient's red cells were found to be abnormal with the methylene-blue screening test, which is ordinarily an indication of G6PD deficiency; by actual assay, G6PD activity was normal. Administration of primaquine for 30 days produced no hemolysis. Five close relatives including the mother had intermediate levels of NADPH-methemoglobin reductase consistent with heterozygous status. The father was dead. As one would predict from knowledge of the relative activities of the NADPH- and NADH (DPNH)-methemoglobin reductases, methemoglobinemia was not present in the presumed homozygote. Bloom and Zarkowsky (1970) also reported such a patient. Their patient, in comparison with methemoglobinemia cases, demonstrated that NADPH-reductase is separate from NADH-reductase.
If a viable intrauterine pregnancy is not found with ultrasound, blood tests (serial βHCG tests) can be performed to rule out ectopic pregnancy, which is a life-threatening situation. [90] [91] If hypotension , tachycardia , and anemia are discovered, exclusion of an ectopic pregnancy is important. [91] A miscarriage may be confirmed by an obstetric ultrasound and by the examination of the passed tissue. ... Crown–rump length of less than 7 mm and no heartbeat. [93] [94] Mean gestational sac diameter of at least 25 mm and no embryo. Mean gestational sac diameter of 16–24 mm and no embryo. [93] [94] Absence of embryo with heartbeat at least 2 weeks after an ultrasound scan that showed a gestational sac without a yolk sac . Absence of embryo with heartbeat 7–13 days after an ultrasound scan that showed a gestational sac without a yolk sac. [93] [94] Absence of embryo with heartbeat at least 11 days after an ultrasound scan that showed a gestational sac with a yolk sac. Absence of embryo with heartbeat 7–10 days after a scan that showed a gestational sac with a yolk sac. [93] [94] Absence of embryo at least 6 weeks after last menstrual period . [93] [94] Amniotic sac seen adjacent to yolk sac, and with no visible embryo. [93] [94] Yolk sac of more than 7 mm. [93] [94] Small gestational sac compared to embryo size (less than 5 mm difference between mean sac diameter and crown–rump length). [93] [94] Classification [ edit ] A threatened miscarriage is any bleeding during the first half of pregnancy. [95] At investigation it may be found that the fetus remains viable and the pregnancy continues without further problems. [ medical citation needed ] An anembryonic pregnancy (also called an "empty sac" or "blighted ovum") is a condition where the gestational sac develops normally, while the embryonic part of the pregnancy is either absent or stops growing very early.
American Journal of Kidney Diseases . 68 (3): 488–98. doi : 10.1053/j.ajkd.2016.03.422 . ... A defect in bicarbonate reabsorption with normal urinary acidification" . Pediatric Research . 1 (2): 81–98. doi : 10.1203/00006450-196703000-00001 . ... Journal of the American Society of Nephrology . 13 (8): 2160–70. doi : 10.1097/01.ASN.0000023430.92674.E5 . PMID 12138150 . ^ de Jong PE, Koomans HA, Weening JJ (2000). ... "Carbonic anhydrase II (CA II) deficiency in Maghrebian patients: evidence for founder effect and genomic recombination at the CA II locus". Human Genetics . 99 (5): 634–7. doi : 10.1007/s004390050419 . ... The Journal of Pediatrics . 8 (4): 489–99. doi : 10.1016/s0022-3476(36)80111-5 . ^ Baines AM, Barelay JA, Cooke WT (1945).
Men are affected much more frequently than women. [3] In fact, up to 25% of men over the age of 80 may have evidence of WTTA. [4] Patients often present with increased thickness of the wall of the main heart chamber, the left ventricle . ... Human Pathology (Submitted manuscript). 42 (11): 1785–91. doi : 10.1016/j.humpath.2011.03.004 . ... PMID 19752327 . ^ Banypersad SM, Moon JC, Whelan C, Hawkins PN, Wechalekar AD (April 2012). "Updates in cardiac amyloidosis: a review" . ... "The transthyretin amyloidoses: advances in therapy". Postgraduate Medical Journal . 91 (1078): 439–48. doi : 10.1136/postgradmedj-2014-133224 .
Cornet et al. (2009) reported the long-term follow-up of 111 patients with PPBL, including 91 (82%) women and 20 men. Most (98%) were smokers and were either asymptomatic or had minor nonspecific complaints, such as fatigue. ... Fluorescence in situ hybridization (FISH) in 84 cases showed isochromosome 1(3q) in 71%.
Persistent polyclonal B-cell lymphocytosis (PPBL) is a rare, generally benign, lymphoproliferative hematological disease characterized by: chronic, stable, persistent, polyclonal lymphocytosis of memory B-cell origin, the presence of binucleated lymphocytes in the peripheral blood, and a polyclonal increase in serum immunoglobulin M (IgM). Patients are most frequently asymptomatic or may present with mild splenomegaly.
Invasive lobular carcinoma is breast cancer arising from the lobules of the mammary glands . [1] It accounts for 5-10% of invasive breast cancer . [2] [3] The histologic patterns include: [4] [5] [6] Type Prevalence Description Image Classical 40% round or ovoid cells with little cytoplasm in a single-file infiltrating pattern, sometimes concentrically giving a targetoid pattern Mixed 40% No dominant pattern Solid 10% Sheets of classical-appearing cells with little intervening stroma Alveolar 5% Aggregates of classical-appearing cells Tubulolobular 5% Cells form microtubules in >90% of tumor (smaller than in tubular carcinoma) Pleomorphic Classical-appearing but with pleomorphic cells Histopathology of invasive lobular carcinoma (ILC), next to lobular carcinoma in situ (LCIS). ... Overall, the five-year survival rate of invasive lobular carcinoma was approximately 85% in 2003. [7] Loss of E-cadherin is common in lobular carcinoma but is also seen in other breast cancers. [8] Treatment includes surgery and adjuvant therapy. ... "Ultrasound findings in pure invasive lobular carcinoma of the breast: comparison with matched cases of invasive ductal carcinoma of the breast". Breast . 8 (4): 188–90. doi : 10.1054/brst.1999.0042 . PMID 14731438 . ^ Boughey JC, Wagner J, Garrett BJ, et al. ... Breast Dis . 30 : 15–19. doi : 10.3233/BD-2009-0278 . PMID 19850991 . External links [ edit ] Classification D ICD-O : M8520/3 v t e Breast cancer Types Ductal Ductal carcinoma in situ (DCIS) : Paget's disease of the breast Comedocarcinoma Invasive ductal carcinoma (IDC) Intraductal papilloma Lobular Lobular carcinoma in situ (LCIS) Invasive lobular carcinoma (ILC) Fibroepithelial / stromal Fibroadenoma Phyllodes tumor Other Medullary carcinoma Male breast cancer Inflammatory breast cancer Precursor lesions Atypical ductal hyperplasia Nipple adenoma General Breast cancer Classification Risk factors Alcohol Hereditary breast—ovarian cancer syndrome BRCA mutation Screening Treatment Other Breast cancer awareness Pink ribbon National Breast Cancer Awareness Month List of people with breast cancer v t e Glandular and epithelial cancer Epithelium Papilloma / carcinoma Small-cell carcinoma Combined small-cell carcinoma Verrucous carcinoma Squamous cell carcinoma Basal-cell carcinoma Transitional cell carcinoma Inverted papilloma Complex epithelial Warthin's tumor Thymoma Bartholin gland carcinoma Glands Adenomas / adenocarcinomas Gastrointestinal tract: Linitis plastica Familial adenomatous polyposis pancreas Insulinoma Glucagonoma Gastrinoma VIPoma Somatostatinoma Cholangiocarcinoma Klatskin tumor Hepatocellular adenoma / Hepatocellular carcinoma Urogenital Renal cell carcinoma Endometrioid tumor Renal oncocytoma Endocrine Prolactinoma Multiple endocrine neoplasia Adrenocortical adenoma / Adrenocortical carcinoma Hürthle cell Other/multiple Neuroendocrine tumor Carcinoid Adenoid cystic carcinoma Oncocytoma Clear-cell adenocarcinoma Apudoma Cylindroma Papillary hidradenoma Adnexal and skin appendage sweat gland Hidrocystoma Syringoma Syringocystadenoma papilliferum Cystic, mucinous, and serous Cystic general Cystadenoma / Cystadenocarcinoma Mucinous Signet ring cell carcinoma Krukenberg tumor Mucinous cystadenoma / Mucinous cystadenocarcinoma Pseudomyxoma peritonei Mucoepidermoid carcinoma Serous Ovarian serous cystadenoma / Pancreatic serous cystadenoma / Serous cystadenocarcinoma / Papillary serous cystadenocarcinoma Ductal, lobular, and medullary Ductal carcinoma Mammary ductal carcinoma Pancreatic ductal carcinoma Comedocarcinoma Paget's disease of the breast / Extramammary Paget's disease Lobular carcinoma Lobular carcinoma in situ Invasive lobular carcinoma Medullary carcinoma Medullary carcinoma of the breast Medullary thyroid cancer Acinar cell Acinic cell carcinoma
Overview Invasive lobular carcinoma is a type of breast cancer that begins in the milk-producing glands (lobules) of the breast. Invasive cancer means the cancer cells have broken out of the lobule where they began and have the potential to spread to the lymph nodes and other areas of the body. Invasive lobular carcinoma makes up a small portion of all breast cancers. The most common type of breast cancer begins in the breast ducts (invasive ductal carcinoma). Symptoms At its earliest stages, invasive lobular carcinoma may cause no signs and symptoms.
Clinical Features Gustavson et al. (1984) reported a girl with a developmental history and features typical of Prader-Willi syndrome (PWS; 176270), including muscular hypotonia that was severe in infancy, pronounced early childhood obesity, small hands and feet, shortness of the fifth fingers relative to the other digits, facial changes, and retarded psychomotor development. She did not have short stature; the authors commented that patients with PWS occasionally have normal stature until later childhood. The patient previously reported by Gustavson et al. (1984) was reexamined at 29 years of age by Mansouri et al. (2005), at which time they reported that her PWS-like features had disappeared with age. She was no longer obese, but was of average height and weight, and had severe psychomotor retardation with an IQ of 30. She had epileptic seizures beginning at 4 years of age. She had a dysmorphic facial appearance with a small nose, epicanthal folds, high-arched palate, large front teeth, low posterior hairline, small hands with clinodactyly of the fifth fingers, and small feet in planovalgus position.
Fertility and Sterility . 95 (7): 2204–2208.e3. doi : 10.1016/j.fertnstert.2011.03.079 . ... Fertility and Sterility . 95 (7): 2204–2208.e3. doi : 10.1016/j.fertnstert.2011.03.079 . ... American Journal of Obstetrics and Gynecology . 201 (1): 12.e1–12.e8. doi : 10.1016/j.ajog.2009.04.024 . ... "Challenges of diagnosing and managing the adolescent with heavy menstrual bleeding". Thrombosis Research . 143 : 91–100. doi : 10.1016/j.thromres.2016.05.001 . ... Journal of Midwifery & Women's Health . 54 (6): 483–91. doi : 10.1016/j.jmwh.2009.08.007 .
African Journal of Medicine and Medical Sciences . 37 (2): 99–105. PMID 18939392 . ^ a b c d e f g "Causes of Diabetes" . ... "Diabetes and obesity: the twin epidemics". Nature Medicine . 12 (1): 75–80. doi : 10.1038/nm0106-75 . PMID 16397575 . ... "Pathophysiology of type 1 and type 2 diabetes mellitus: a 90-year perspective". Postgraduate Medical Journal . 92 (1084): 63–9. doi : 10.1136/postgradmedj-2015-133281 . ... Bulletin of the World Health Organization . 91 (9): 671–682D. doi : 10.2471/BLT.12.113415 . ... The Journal of Clinical Endocrinology and Metabolism . 99 (10): 3551–60. doi : 10.1210/jc.2014-2136 .
The contributions of Native American ancestors to maternal and paternal lineages were estimated as 90% and 40%, respectively. In a logistic model with higher educational status as dependent variable, the odds ratio for higher educational status associated with an increase from 0 to 1 in European admixture proportions was 9.4. ... Both SI x AIRglucose and SI showed strong negative genetic correlations with diabetes (-85 +/- 3% and -87 +/- 2%, respectively, for all family members), whereas AIRglucose did not correlate with diabetes. ... To investigate how insulin resistance arises, Petersen et al. (2003) studied 16 healthy, lean elderly aged 61 to 84 and 13 young participants aged 18 to 39 matched for lean body mass (BMI less than 25) and fat mass assessed by DEXA (dual energy X-ray absorptiometry) scanning, and activity level. ... The insulin-stimulated rate of glucose uptake by muscle was approximately 60% lower in insulin-resistant subjects than in controls (p less than 0.001) and was associated with an increase of approximately 80% in intramyocellular lipid content (p less than 0.005). ... This resulted in a suggestive maximum multipoint lod score of 2.3 (single-point P value, 9.7 x 10(-4); genomewide P value, 0.028) for the most obese 20% pedigrees of the dataset, between marker loci D18S471 and D18S843. In the lowest 80% obese pedigrees, 2 interesting loci on chromosome 2 and 19 were found, with lod scores of 1.5 and 1.3.
Overview Type 2 diabetes is a condition that happens because of a problem in the way the body regulates and uses sugar as a fuel. That sugar also is called glucose. This long-term condition results in too much sugar circulating in the blood. Eventually, high blood sugar levels can lead to disorders of the circulatory, nervous and immune systems. In type 2 diabetes, there are primarily two problems. The pancreas does not produce enough insulin — a hormone that regulates the movement of sugar into the cells. And cells respond poorly to insulin and take in less sugar. Type 2 diabetes used to be known as adult-onset diabetes, but both type 1 and type 2 diabetes can begin during childhood and adulthood.
Frequency Type 2 diabetes is the most common type of diabetes, accounting for 90 to 95 percent of all cases. In 2015, more than 23 million people in the United States had diagnosed diabetes and an additional 7 million people likely had undiagnosed diabetes.
Please help improve this article by adding citations to reliable sources . ... "Pregnancy outcomes in unicornuate uteri: A review". Fertility and Sterility . 91 (5): 1886–94. doi : 10.1016/j.fertnstert.2008.02.163 . ... "Reproductive outcomes in women with congenital uterine anomalies detected by three-dimensional ultrasound screening". Obstetrics & Gynecology . 98 (6): 1099–103. doi : 10.1016/S0029-7844(01)01599-X .
"Genetics of Renal Hypoplasia: Insights Into the Mechanisms Controlling Nephron Endowment" . Pediatric Research . 68 (2): 91–98. doi : 10.1203/PDR.0b013e3181e35a88 – via www.nature.com. ^ a b Lote, Christopher J. (2012).
Oligomeganephronia represents a severe variant of hypoplasia in which nephron number is reduced by 80% and nephrons are markedly hypertrophied Antenatal diagnosis Antenatal ultrasonographic screening is becoming routine and allows detection of renal hypoplasia from midway through gestation.
Am. J. Gastroenterol . 104 (4): 984–91. doi : 10.1038/ajg.2009.27 . PMID 19293788 . ^ Garg, A; Grundy, SM; Unger, RH (Oct 1992). "Comparison of effects of high and low carbohydrate diets on plasma lipoproteins and insulin sensitivity in patients with mild NIDDM". Diabetes . 41 (10): 1278–85. doi : 10.2337/diabetes.41.10.1278 . ... "Effect of fibrates on lipid profiles and cardiovascular outcomes: a systematic review". Am J Med . 122 (10): 962.e1–962.e8. doi : 10.1016/j.amjmed.2009.03.030 .
Teeth most affected are maxillary lateral incisors (80%), [2] followed by maxillary canines (20%). [2] Bilateral occurrence is not uncommon (25%). [2] Contents 1 Signs and symptoms 2 Cause 3 Diagnosis 3.1 Oehler's classification 3.2 Histology 4 Management 5 References 6 External links Signs and symptoms [ edit ] Tooth affected by this condition has a higher risk of developing caries and periradicular pathology. [1] The thin layer of the infolding enamel could be chipped off easily, providing entrance for microorganisms into the tooth canal. ... Journal of Endodontics . ^ Radicular Dens Invaginatus: Report of a Rare Case https://www.hindawi.com/journals/crid/2012/871937/ ^ a b Pushpak Narayana, BDS; Gary R Hartwell, DDS, MS; Robert Wallace, DDS, MSc; Umadevi P Nair, DMD, MDS (August 2012).
Overview Primary progressive aphasia (uh-FAY-zhuh) is a rare nervous system syndrome that affects the ability to communicate. People who have it can have trouble expressing their thoughts and understanding or finding words. Symptoms begin gradually, often before age 65. They get worse over time. People with primary progressive aphasia can lose the ability to speak and write. Eventually they're not able to understand written or spoken language.
Primary progressive aphasia (PPA) is a neurodegenerative disorder, characterized by a primary dissolution of language, with relative sparing of other mental faculties for at least the first 2 years of illness. PPA is recognized as the language variant in the frontotemporal dementia (FTD; see this term) spectrum of disorders. PPA can be classified into 3 subtypes based on specific speech and language features: semantic dementia (SD), progressive non-fluent aphasia (PNFA) and logopenic progressive aphasia (lv-PPA) (see these terms).
Primary progressive apraxia of speech is a rare neurodegenerative disease characterized by impaired planning or programming of the movements for speech, leading to phonetically and prosodically abnormal speech, in absence, at onset, of any other neurological features (such as aphasia, memory loss, pyramidal signs). Patients usually present articulatory distortions/groping, slow rate, distorted sound substitutions and/or trial and error articulatory movements which begin insiduously and worsen over time.
Primary progressive aphasia (PPA) affects a person's ability to use language to communicate. This includes difficulty making or understanding speech ( aphasia ). PPA is a specific type of a more general disease called frontotemporal dementia . PPA can be classified into three distinct types which include: Progressive non-fluent aphasia (PNFA) Semantic dementia (SD) Logopenic progressive aphasia (LPA) PPA is caused by a loss of tissue (atrophy) in the area of the brain that is responsible for producing language. In some cases, this loss of tissue is caused by genetic changes ( mutations or pathogenic variants) in the GRN gene . In these cases, the disease is inherited in an autosomal dominant manner.
Archives of Environmental Health . 19 (5): 685–91. doi : 10.1080/00039896.1969.10666910 . ... Bulletin de l'Académie Nationale de Médecine (in French). 147 : 458–62. PMID 14054203 . Roberts, Ae (Dec 1951). "Platinosis; a five-year study of the effects of soluble platinum salts on employees in a platinum laboratory and refinery".