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Deafness With Anhidrotic Ectodermal Dysplasia
OMIM
Clinical Features Helweg-Larsen and Ludvigsen (1946) reported a kindred of 14 in 5 generations with anhidrosis, 5 of whom had defective hearing with onset between 35 and 45 years of age. ... Inheritance There were several instances of father-son transmission in the family reported by Helweg-Larsen and Ludvigsen (1946), suggesting autosomal dominant inheritance.
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Arteries, Anomalies Of
OMIM
Gates (1946) cited a family in which the grandfather showed bilaterally a radial artery that passed over the supinator longus muscle 3 to 4 cm above the wrist and ran over the radial extensors above the styloid process. ... This was clearly the family cited by Gates (1946). Inheritance - Autosomal dominant Vascular - Abnormal radial, ulnar, or interosseous artery ▲ Close
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Ear Flare
OMIM
'Near-head,' intermediate, and 'flare' types can be recognized. The data of Kloepfer (1946) suggested complex genetics. Inheritance - ?
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Burning Feet Syndrome
Wikipedia
Indian Medical Gazette, Calcutta, 1946, 81: 22-26. Journal of the American Medical Association, Chicago, 1946, 131: 1177.
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Don Juanism
Wikipedia
. ^ Millon, Theodore, Personality Disorders in Modern Life, 2004 ^ Sigmund Freud, On Sexuality (PFL7) p. 234-6 ^ Otto Fenichel, The Psychoanalytic Theory of Neurosis (1946) p. 646 ^ Otto Fenichel, The Psychoanalytic Theory of Neurosis (1946) p. 243-4 ^ Otto Fenichel, The Psychoanalytic Theory of Neurosis (1946) p. 502-3 ^ S.
- Corneal Dystrophy, Band-Shaped OMIM
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Moist Desquamation
Wikipedia
Historically, this was a common phenomenon in Hiroshima and Nagasaki during World War II with the atomic bomb attacks from the United States . [1] The phenomenon was famously described by John Hersey in his 1946 article, and later book, Hiroshima .
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Perinephritis
Wikipedia
ISSN 0002-9955 . ^ a b LeComte, R. M. (1946). "Perinephritis and Perirenal Abscess1".
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Fingers, Relative Length Of
OMIM
Clinical Features Kloepfer (1946) studied the relative length of the index and middle fingers.
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Neuropathy, Hereditary Sensory And Autonomic, Type Iia
OMIM
They suggested that the families of Schoene et al. (1970), Ogryzlo (1946), and Parks and Staples (1945) had the same condition. ... Lafreniere et al. (2004) reported 5 families with HSAN2, including the large family from Newfoundland originally reported by Ogryzlo (1946). Beginning in early childhood, affected individuals experienced numbness in the hands and feet, aggravated by cold, together with reduced sensation to pain. ... Mapping By linkage analysis of 8 affected members from the consanguineous multigenerational Newfoundland pedigree reported by Ogryzlo (1946), and an additional family with 2 affected members, Lafreniere et al. (2004) mapped the HSAN2 disease locus to 12p13.33 (maximum lod score of 8.4). Molecular Genetics Among 5 families with HSAN2, including those from Newfoundland reported by Ogryzlo (1946) and patients from rural Quebec and Nova Scotia, Lafreniere et al. (2004) identified 3 different truncating mutations in the HSN2 isoform of the WNK1 gene (605232.0003-605232.0005) In 4 affected members of a large consanguineous Lebanese family with HSAN2, Riviere et al. (2004) identified a homozygous 1-bp deletion in the HSN2 isoform of the WNK1 gene (605232.0006).
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Hypoactivity
Wikipedia
Nisbett (b. 1941) Martin Seligman (b. 1942) Ed Diener (b. 1946) Shelley E. Taylor (b. 1946) John Anderson (b. 1947) Ronald C.APOD, GCH1, OPRL1, ACTA1, MRPS16, PDE8B, DPM2, AIFM1, GPHN, KLHL41, POLG2, ATP13A2, RRM2B, WWOX, PAM16, TPM2, LMOD3, TWNK, FIGNL1, SLC52A2, GFM1, KLHL40, UNC80, DOK7, TPM3, SNCA, TH, MTM1, SLC25A4, CFL2, DDC, GBA, GLRA1, LAMA2, LAMP2, MPZ, MUSK, MYOD1, NEB, NUP88, POLG, PPP2R2B, PRNP, RAPSN, SLC6A3, ALG11, ADSL
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Wissler's Syndrome
Wikipedia
It is sometimes considered closely related to Still's disease . [1] It is named for Guido Fanconi and Hans Wissler [2] [3] It was first described by Wissler in 1944 and Fanconi in 1946. Single observations by E. Uhse in 1943 («Febris maculosa intermittens»), Fykow in 1929 and Nowak in 1942.
- Zygodactyly 1 OMIM
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Rickettsialpox
Wikipedia
Rickettsialpox Rickettsialpox lesion Specialty Infectious disease Prognosis Resolves in 2-3 weeks without treatment Rickettsialpox is a mite-borne infectious illness caused by bacteria of the genus Rickettsia ( Rickettsia akari ). [1] Physician Robert Huebner and self-trained entomologist Charles Pomerantz played major roles in identifying the cause of the disease after an outbreak in 1946 in a New York City apartment complex, documented in "The Alerting of Mr. ... Physicians who had seen patients starting in early 1946 had assumed that they were dealing with an atypical form of chickenpox , but the realization was made that they were dealing with a localized epidemic of unknown origins starting in the summer of that year. ... Health Service Roots Out Cause of Spotted Ailment That Struck in Queens NO CURE IS FOUND AS YET Victim Made Ill by Bite of Insect--Weinstein Urges War on Rodents Some Removed to Hospitals Blood of Patients Sampled" , The New York Times , October 4, 1946. Accessed July 23, 2009. ^ Parola, Philippe.
- Hair Whorl OMIM
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Preauricular Fistulae, Congenital
OMIM
Inheritance Report of large kindreds such as that of Bhalla et al. (1979) in which there are no associated features or lateral cervical sinuses suggests that the trait is a distinct mendelian dominant. Population Genetics Ewing (1946) found ear pits in 0.9% of 3,500 British service men.
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Sclerosteosis 1
OMIM
The jaw has an unusually square appearance in this condition. The cases of Kelley and Lawlah (1946) and of Witkop (1965) were from an inbred triracial group in southern Maryland known as the 'We-Sorts.' ... Affected sibs were observed by Hirsch (1929), Falconer and Ryrie (1937), Higinbotham and Alexander (1941), Kelley and Lawlah (1946), Truswell (1958) and Klintworth (1963).
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Surface Dyslexia
Wikipedia
Nisbett (b. 1941) Martin Seligman (b. 1942) Ed Diener (b. 1946) Shelley E. Taylor (b. 1946) John Anderson (b. 1947) Ronald C.
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Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
OMIM
Clinical Features Divry and Van Bogaert (1946) described brothers who presented with epilepsy, pseudobulbar syndrome, extrapyramidal signs, dementia, hemianopsia, and 'marbled skin' resulting from a telangiectatic network.
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Potter Sequence
Wikipedia
However, BRA is often referred to as classic Potter sequence , as it was this particular phenotype of neonates and fetuses that Potter originally reported in her 1946 manuscripts when characterizing this birth defect. ... Her parents kept her on kidney dialysis at home until old enough for a kidney transplant. [10] On February 8, 2016, at the age of two, Abigail received a kidney from her father at the Lucile Packard Children's Hospital Stanford in California. [11] [12] [13] History [ edit ] Bilateral renal agenesis (BRA) was first recognized as a defect of human fetal development in 1671 by Wolfstrigel. [14] In 1946, Edith Potter (1901–1993) described a series of 20 cases with absent kidneys, noting the characteristic appearance of the head and lungs. [15] [16] Up until this time, the condition itself was considered to be extremely rare. ... It was not until later that the term became more encompassing as it was noted that other causes of failed fetal urine production also resulted in similar physical characteristics and prognoses of the fetuses and infants with BRA (that which Potter originally described in 1946). Since then, the term Potter syndrome has become a misnomer and experts have attempted not to eliminate the terminology, but to modify it in a way so as to be able to determine the different root causes by creating a nomenclature system. ... PMID 10672944 . ^ a b POTTER, EL (June 1946). "Facial characteristics of infants with bilateral renal agenesis".RET, ITGA8, GREB1L, FREM1, FGF20, ANOS1, FREM2, SIX1, DHCR7, CCDC141, PUF60, PHGDH, TCTN3, KIF7, NSMF, SH2B1, NDUFAF3, FLRT3, CIT, NSDHL, SDCCAG8, SEMA3A, SCO2, KIF14, KIAA0753, SEMA3E, HS6ST1, FOXH1, FGF17, DLL1, CDON, FAM149B1, PIEZO2, PROKR2, CCNQ, DISP1, KISS1R, SPRY4, VANGL1, FUZ, THOC6, CPLANE1, PROK2, TMEM216, SALL4, WDR11, CHD7, CEP55, MKS1, IL17RD, WNT4, ATRX, SUFU, HESX1, FEZF1, TP63, NDUFS2, LRP4, OFD1, HOXD13, HNF4A, GLI3, GLI2, GAS1, FGFR2, FGFR3, FGFR1, FGF10, FGF8, FANCB, FANCE, FANCD2, FANCC, FANCA, EYA1, DUSP6, DHCR24, DCC, NDUFB8, INSL3, NODAL, SIX3, ZIC3, ZIC2, WNT3, TGIF1, TFAP2A, TDGF1, HNF1B, TACR3, SOX10, SURF1, PTCH1, PBX1, RPL26, PDE6D, SHH, FRAS1, HOXD11, CFTR, GEN1, IFNG, SOX9, NOTUM, RARA, GDNF, RAB40B, IFT27, SOX8, AFP