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Pyruvate Carboxylase Deficiency
OMIM
Robinson et al. (1984) concluded that the 2 subtle types of PC deficiency result from 2 different mutations in the PC gene, 1 that synthesizes an inactive protein and 1 that results in lack of protein expression. ... Three families with the French presentation had absence of immunoreactive PC protein and PC mRNA; however, another 3 families with the French presentation had evidence of protein production as well as PC mRNA. ... Diagnosis Prenatal Diagnosis Tsuchiyama et al. (1983) reported a patient with PC deficiency and PC activity of about 5% of normal. ... Monnot et al. (2009) identified 9 novel mutations in the PC gene (see, e.g., 608786.0007-608786.0009) in 5 unrelated patients with PC deficiency: 3 had the more severe type B PC, and 2 had type A. PC activity in cultured fibroblasts was undetectable in all patients.
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Pachyonychia Congenita 4
OMIM
Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by Sybert, 2010; Eliason et al., 2012; McLean et al., 2011). ... PC type 2, the Jackson-Lawler type, has natal teeth and epidermoid cysts (cylindromas), but no oral leukoplakia. Corneal dystrophy may be a feature exclusively of the Jackson-Lawler type. Smith et al. (1998) stated that PC type 2, in contrast to PC type 1, has minimal oral involvement and milder keratoderma, and multiple steatocystomas (184500) is a major clinical feature. ... Natal teeth are indicative of PC type 2, although their absence does not preclude the PC type 2 diagnosis. Nomenclature The form of PC caused by mutation in the KRT6B gene, here designated PC4, has also been designated PC-6b (Eliason et al., 2012) and PC-K6b (Shah et al., 2014).
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Post-Concussion Syndrome
Wikipedia
Education about symptoms and details about expectation of recovery are important. The majority of PCS cases resolve after a period of time. ... However, studies have found some subtle physiological changes associated with PCS using more novel imaging modalities. Studies using positron emission tomography have linked PCS to a reduction in glucose use by the brain. ... Many of these PCS sufferers were misdiagnosed as having other unrelated conditions due to commonality of symptoms. (see diagnosis above). [70] Headache is one of the criteria for PCS, but it is notably undetermined where the headache comes from.
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Premature Chromatid Separation Trait
OMIM
MVA occurs when the offspring of 2 parents heterozygous for the PCS trait inherits both mutant BUB1B alleles. ... Several references listed in this entry (e.g., Rudd et al., 1983; Gabarron et al., 1986) have incorrectly used the designation PCD when referring to PCS. To avoid confusion, we have changed the designation to PCS in our discussion of these references. ... Petkovic (2007) reported a 3-generation family with autosomal dominant inheritance of PCS. Cytogenetic studies on peripheral blood lymphocytes demonstrated PCS frequency of 8.5% to 13.5% in 4 affected members. ... The father and mother had 6.5% and 16% PCS in cultured lymphocytes, respectively, consistent with heterozygosity for the PCS trait. Amniocentesis at 16 weeks in a subsequent pregnancy showed 4.5% cells in PCS and a nonmosaic 46,XY karyotype, also consistent with a heterozygous carrier of the PCS trait.
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Parotid Proline-Rich Salivary Protein Pc
OMIM
Karn et al. (1985) identified a new polymorphism, Pc, in human salivary proteins. Two proteins, Pc1 and Pc2, determined by alleles Pc(1) and Pc(2), showed autosomal codominant inheritance. ... By in situ hybridization, Mamula et al. (1985) regionalized the salivary protein gene complex to 12p13.2. Although Pc is clearly a proline-rich salivary protein coded by the gene cluster on 12p, its relation to the 6 gene loci identified there is not known (Azen, 1990).
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Familial Pancreatic Carcinoma
Orphanet
Familial pancreatic carcinoma is defined by the presence of pancreatic cancer (PC) in two or more first-degree relatives. Epidemiology The annual incidence has been estimated at approximately 1-10/1,000,000, representing 5-10% of all PC cases. Clinical description In familial cases, disease onset occurs before 50 years of age, earlier than for the other forms of PC. ... Smoking represents a significant risk factor associated with familial PC. PC can arise from the exocrine (95%) or endocrine portions of the pancreas. ... Etiology Mutations in the KRAS , CDKN2A , TP53 , and SMAD4 genes have been shown to play a role in the etiology of PC. However, they are still not clinically useful for screening or for diagnosing the disease. ... Even after complete resection of the tumor, recurrence rates remain high. Patients with a family history of PC should be strongly advised to avoid or cease smoking.
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Pachyonychia Congenita
Wikipedia
PC-K6b is caused by a mutation in the KRT6B gene and more commonly associated with an increased age of onset (>14 years). PC-K6c is caused by a mutation in the KRT6C gen e and is the least common sub-type. ... If there is a clinical suspicion for PC, genetic testing can confirm the diagnosis. [1] Genetic Diagnosis [ edit ] The diagnosis of PC can be confirmed by the identification of a mutation in one of the five genes responsible for the condition: KRT6A, KRT6B, KRT6C, KRT16, KRT17. Pachyonychia Congenita Project is a non-profit dedicated to finding a cure for PC. The organization houses a genetic registry (the International PC Research Registry) and offers free genetic testing for individuals suspected to have PC. [11] Treatment [ edit ] There is currently no cure for pachyonychia congenita. ... ISBN 0-7216-2921-0 . ^ a b "International PC Research Registry (IPCRR)" . www.pachyonychia.org .
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Mosaic Variegated Aneuploidy Syndrome 1
OMIM
See also premature chromatid separation (PCS; 176430), which can be caused by heterozygous mutation in the BUB1B gene. PCS is inherited as an autosomal dominant trait without phenotypic consequences. ... Another 10 relatives showed 0 to 1% cells with total PCS and so were judged negative for the total PCS trait. ... Plaja et al. (2001) studied 3 patients with MVA related to PCS, showed that the phenomenon is expressed in vivo, and found that PCS is a cancer-prone disorder. ... Cytogenetic analysis of 2 infants showed 48.5% and 83.2% lymphocytes in total PCS; their parents had 3.5 to 41.7% of their lymphocytes in total PCS.
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Pachyonychia Congenita
MedlinePlus
Researchers used to distinguish pachyonychia congenita as one of two types, PC-1 or PC-2, based on the genetic cause and pattern of signs and symptoms. ... When pachyonychia congenita is caused by mutations in the KRT6A gene, it is classified as PC-K6a. Similarly, KRT6B gene mutations cause PC-K6b, KRT6C gene mutations cause PC-K6c, KRT16 gene mutations cause PC-K16, and KRT17 gene mutations cause PC-K17.
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Posterior Cord Syndrome
Wikipedia
Human spinal cord disorder Posterior cord syndrome 5: posterior spinal arteries Posterior cord syndrome (PCS) , also known as posterior spinal artery syndrome (PSA), is a type of incomplete spinal cord injury . [1] PCS is the least commonly occurring of the six clinical spinal cord injury syndromes , with an incidence rate of less than 1%. ... Therapy and rehabilitative care including walking aids, physical, occupational, and psychotherapy can help ease the symptoms associated with PCS. Acute therapy can include intensive medical care and analgesia . ... In addition, the demographics of patients suffering from PCS are widespread as the onset of symptoms typically follows a traumatic event. Additionally, research has suffered setbacks because PCS is extremely rare with few documented cases, unlike anterior spinal cord injury. [1] [3] [9] However, ongoing research has helped in differentiating PCS from other brain injuries. Therefore, better therapies for PCS treatment can be developed. For instance, one study suggests that a tissue plasminogen activator (tPA) therapy intervention, commonly used in stroke patients, [10] may aid in treating patients with symptoms of PCS. [11] References [ edit ] ^ a b c d "Incomplete Spinal Cord Injury" .
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Premature Centromere Division
OMIM
PCD is distinct from the similarly named 'premature chromatid separation' (PCS; 176430), in which chromatids are separate and splayed and the centromeres are discernible (Kajii and Ikeuchi, 2004). PCS is an autosomal dominant trait that affects all chromosomes and is associated with heterozygous mutations in the mitotic spindle checkpoint gene BUB1B (602860). ... INHERITANCE - Isolated cases LABORATORY ABNORMALITIES - Premature centromere division (PCD) of the X chromosome observed in cultured lymphocytes during metaphase - PCD shows separate and rod-shaped X chromosomes without discernible centromeres - Aneuploidy of the X chromosome MISCELLANEOUS - More commonly observed in women - Associated with increasing age - PCD is a distinct disorder from premature chromatid separation (PCS, 176430 ), which occurs in all chromosomes ▲ CloseCDR2, SLC22A5, CDR2L, ETFDH, CDR1, AGTPBP1, CBX1, TRAT1, DNAI1, LDLRAP1, DNAH11, CREB3, KRT20, ZIC2, ZIC1, TP53, TNF, SYT1, IBD5, BCL2, DNAAF5, SNRPB, NOD2, GORASP1, WNK1, SPEF2, ZIC4, TRIM9, RBM45, IL23R, GAS2L2, POC1B, DNAAF3, LINC01194, PNPLA2, SLC22A4, CA8, SDC1, RUNX1T1, CD19, MS4A1, CD40, CDKN2A, CENPB, AKR1C4, COX8A, DNAH5, DNAH6, ERBB2, ETFA, GAS8, HLA-DQA1, HLA-DRB1, HSPA5, HTC2, ICAM1, IL6, CXCL8, MEN1, NCAM1, NOTCH3, PCBD1, PROC, PTPRC, RELA, TRIM67
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Peritoneal Carcinomatosis
Wikipedia
Find sources: "Peritoneal carcinomatosis" – news · newspapers · books · scholar · JSTOR ( November 2018 ) Peritoneal carcinomatosis Intestines with peritoneal carcinomatosis from gastric cancer , appearing as a grainy serosal surface. [1] Specialty Oncology Peritoneal carcinomatosis (PC) is intraperitoneal dissemination ( carcinosis ) of any form of cancer that does not originate from the peritoneum itself. PC is most commonly seen in abdominopelvic malignancies.CTNNB1, WT1, IGF2BP3, CALB2, PDPN, MLANA, MUC1, SLC2A1, MCAM, VIM, TWIST1, CEACAM5, SERPINA5, CEACAM7, SMUG1, PSG2, CEACAM3, TGFB1, TP53, CXCR4, CXCL12, KRAS, EPCAM, NR1I3, NPEPPS, SLC16A4, MET, SLC16A3, PGK1, PLAG1, PRKAR1A, PROS1, SPG7, IFNG, HGF, CXADRP1, CASR, ESR2, KLK3, TRIM13, CXADR, BRCA1, ARR3, BRCA2, PSAT1, COL18A1, PROKR2, MUC16, TRIM28, CLEC4D, TSPY3, VEGFA, TSPY1, IL33, GEMIN2, DCLK3, BAP1, PROK1, SOCS1, CFLAR, DCDC2, GPKOW, B3GAT1, SCAF11, HPS5, SLC9A3R2, ZEB2, AGTR1, PIK3CA, TGFBI, CD80, EGFR, HBEGF, ATN1, CTLA4, CDKN3, CDKN2A, CD86, CD8A, TFAP2A, C1QBP, BRAF, BNIP3L, BNIP3, BDNF, ATF3, AREG, FGFR2, MTOR, FSHR, IL2RG, TAC1, SST, SSAV1, RPS6KB1, REV3L, AMBP, PF4, OPRM1, NTRK2, MMP2, MLH1, SMAD2, KLRC1, KDR, ING2, TSPY10
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Carbonic Anhydrase Va Deficiency
GeneReviews
The three biotin-dependent carboxylases: Propionyl-CoA carboxylase (PCC) encoded by PCCA and PCCB (See Propionic Acidemia.) 3-methylcrotonyl-CoA carboxylase (3MCC) encoded by MCCC1 and MCCC2 (OMIM 210200, OMIM 210210) Pyruvate carboxylase (PC) encoded by PC (See Pyruvate Carboxylase Deficiency.) ... Low C0 (free carnitine) and elevated C2, C3, and C5OH Pyruvate carboxylase (PC) deficiency is characterized in most affected individuals by failure to thrive, developmental delay, recurrent seizures, and metabolic acidosis. ... The differences, however, include the following: Glutamine levels are elevated in CA-VA deficiency whereas they are normal to decreased in PC deficiency. Citrulline levels are decreased to normal in CA-VA deficiency whereas they are often elevated in PC deficiency. Lysine levels are normal, and 2-α-ketoglutaric acid and other Krebs cycle intermediates are relatively mildly elevated in CA-VA deficiency. In PC deficiency, lysine is elevated and 2-ketoglutarate and other Krebs cycle metabolites are decreased. The biochemical profiles in the four reported children with CA-VA deficiency support a predominant effect of (secondary) CPS1 deficiency vs PC deficiency. Multiple carboxylase deficiency (holocarboxylase synthetase and biotinidase deficiency ).
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Paramyotonia Congenita
Wikipedia
PC is also distinguished as it can be induced by cold temperatures. Although more typical of the periodic paralytic disorders , patients with PC may also have potassium-provoked paralysis. PC typically presents within the first decade of life and has 100% penetrance. ... [30] * ** *** **** ***** Symptoms of both PC and hyperKPP ( Periodica paralytica paramyotonica ) Also diagnosed as a Potassium-aggravated myotonia Original case reports unpublished. ... There, it was estimated that the prevalence of PC is between 1:350,000 (0.00028%) and 1:180,000 (0.00056%). [20] However, the German population of patients with PC is not uniformly distributed across the country.
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Minor Depressive Disorder
Wikipedia
Typically, patients with minor depression were treated by watchful waiting , prescribed antidepressants , and given brief supportive counseling, but Problem-Solving Treatment for Primary Care (PST-PC) is a Cognitive-Behavioral Therapy that has gained popularity. In one study, PST-PC and Paroxetine , an antidepressant, were shown to be equally effective in significantly reducing symptoms. [6] In another study, PST-PC was compared with the more typical care of the time and shown to reduce symptoms more quickly. [7] Although the use of antidepressants has been widely used, not all agree that it is an appropriate treatment for some minor depression disorder settings. [8] Another alternative that has been researched is the use of St. ... "Checklist for Major Depression (based on DSM IV)" (PDF) . alaap.org . Pediatric Practice, PC. Archived from the original (PDF) on 2 June 2016 .
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Pyruvate Carboxylase Deficiency
Wikipedia
Type A of the disease appears to be much more common in some Algonkian Indian tribes in eastern Canada, while the type B disease is more present in European populations. [3] Contents 1 Genetics 2 Diagnosis 2.1 Classification 2.1.1 Type A 2.1.2 Type B 2.1.3 Type C 3 Treatment 4 References 5 External links Genetics [ edit ] Pyruvate carboxylase deficiency has an autosomal recessive pattern of inheritance. Mutations in the PC gene cause pyruvate carboxylase deficiency. The PC gene provides instructions for making an enzyme called pyruvate carboxylase . ... Pyruvate carboxylase also plays a role in the formation of the protective sheath that surrounds certain nerve cells ( myelin ) and the production of brain chemicals called neurotransmitters. Mutations in the PC gene reduce the amount of pyruvate carboxylase in cells or disrupt the enzyme's activity.
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Urethrorrhagia
Wikipedia
. ^ Walker BR, Ellison ED, Snow BW, Cartwright PC (July 2001). "The natural history of idiopathic urethrorrhagia in boys".
- Chorangiosis Wikipedia
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Roberts Syndrome
OMIM
Tomkins and Sisken (1984) suggested that impediment to cellular growth is responsible for reduced pre- and postnatal growth rates and also for the developmental abnormalities. Premature centromere separation (PCS) has been reported in lymphocytes and/or fibroblasts from at least 17 patients whose clinical phenotypes cover the range of the Roberts syndrome at the severe end and the SC phocomelia syndrome at the milder end (Parry et al., 1986). ... Krassikoff et al. (1986) found that aneuploid cells from a metastatic melanoma in a patient with the Roberts/SC phocomelia syndrome, aged 32 years, showed a reduced frequency of PCS. Furthermore, when the patient's fibroblasts, which showed a high frequency of PCS, were cocultivated with either an immortal hamster cell line or with a human male fibroblast strain carrying a t(4;6) translocation, the phenomenon was neither corrected in the patient's cells nor induced in the other cells. In each experiment, only the patient's metaphase spreads showed PCS. In fusion hybrids between the patient's fibroblasts and an established Chinese cell line, however, the human chromosomes behaved normally. No chromatid repulsion (PCS) was observed, suggesting that the missing or mutant gene product in Roberts/SC phocomelia syndrome is supplied by the Chinese hamster genome.
- Fibroma Of Tendon Sheath Wikipedia