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Diabetic Coma
Mayo_clinic
Symptoms Symptoms of high blood sugar or low blood sugar usually develop before a diabetic coma. ... If you have any symptoms of high or low blood sugar, test your blood sugar right away. ... Low blood sugar can be caused by too much insulin or not enough food. ... It also can alert you to dangerous highs or lows. Check more frequently if you've exercised. ... If you have frequent episodes of high or low blood sugar, tell your health care provider.
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Lowe-Kohn-Cohen Syndrome
Orphanet
Lowe-Kohn-Cohen syndrome is an extremely rare anorectal malformation syndrome characterized by imperforate anus, closed ano-perineal fistula, preauricular skin tag and absent renal abnormalities and pre-axial limb deformities.
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Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Omim
All 5, aged 20 to 39 years, displayed absent puberty, hypogonadism, and variable degrees of short stature. Low insulin-like growth factor-1 (IGF1; 147440) concentration and a lack of growth hormone (GH; 139250) response to provocative tests in all sibs were consistent with GH deficiency. Low testosterone and gonadotropin (see 118850) levels with absent or low response to gonadotropin-releasing hormone (GNRH1; 152760) stimulation indicated hypogonadotropic hypogonadism. ... Thyroid analysis showed variable abnormal thyroid-stimulating hormone (TSH; see 188540) response to thyrotropin-releasing hormone (TRH; 613879) stimulation, suggesting hypothalamic compensated hypothyroidism in 4 patients and laboratory hypothyroidism (low free thyroxine) in 1 patient. Low prolactin (PRL; 176760) levels were shown in 1 case. ... INHERITANCE - Autosomal recessive HEAD & NECK Head - Decreased head circumference Teeth - Dental caries - Hypodontia - Early teeth loss CHEST Breasts - Gynecomastia SKELETAL - Joint contractures Spine - Kyphoscoliosis Hands - Ulnar deviation of the hands SKIN, NAILS, & HAIR Skin - Hyperpigmentation in flexure areas - Pigmented nevi Hair - Alopecia, variable severity - Scalp biopsy shows absence of mature hair follicles MUSCLE, SOFT TISSUES - Muscle atrophy - Decreased subcutaneous fat NEUROLOGIC Central Nervous System - Mental retardation, moderate to severe - Motor deterioration in second decade - Upper motor neuron dysfunction - Lower motor neuron dysfunction - Brain MRI shows hypoplastic pituitary ENDOCRINE FEATURES - Hypogonadotropic hypogonadism - Absent or delayed puberty - Central adrenal insufficiency - Low insulin-like growth factor-1 (IGF1) concentration - Lack of growth hormone (GH) response to stimulation - Low testosterone levels - Low gonadotropin levels - Absent or low response to gonadotropin-releasing hormone stimulation - Adrenocorticotropic hormone (ACTH) deficiency - Abnormal thyroid-stimulating hormone (TSH) response to thyrotropin-releasing hormone (TRH) stimulation, variable - Low prolactin (PRL) levels (in some patients) MISCELLANEOUS - Endocrine defects evolve over time - Based on report of 5 brothers of Arab-Moslem descent (last curated February 2015) MOLECULAR BASIS - Caused by mutation in the RNA-binding motif protein 28 gene (RBM28, 612074.0001 ) ▲ Close
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High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 2
Omim
Mapping Soro et al. (2002) performed a genomewide scan for genes that predispose to low serum HDL cholesterol (see 604091) in 25 well-defined Finnish families that had been ascertained for familial low HDL cholesterol and premature coronary heart disease. They found evidence for linkage between the low HDL cholesterol trait and 3 loci, in a pooled data analysis of families with low HDL cholesterol and familial combined hyperlipidemia (FCHL; 144250). ... Evidence for linkage also emerged for loci on 16q24.1-q24.2 and 20q13.11, the latter representing a region to which type II diabetes (125853) has been mapped (NIDDM3; 603694). Low HDL cholesterol is a common feature in type II diabetes.
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Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Omim
Clinical Features Pedreira et al. (2004) reported a 5-year-old Australian boy who had adrenal hypoplasia congenita (AHC) in association with intrauterine growth retardation (IUGR) and dysmorphic features, including small low-set ears, micrognathia, bilateral cryptorchidism, and micropenis. ... Tan et al. (2006) described 2 Australian sisters with IUGR, AHC, and dysmorphic facial features, including frontal bossing and small low-set ears. Both girls had normal genitalia. ... Affected individuals exhibited a common facial appearance, with long thin nose, small low-set posteriorly rotated ears, crowded dentition, micrognathia, and short wide neck. ... INHERITANCE - Autosomal recessive GROWTH Height - Short stature, severe (mean, -8.1 SD) Weight - Low weight Other - Intrauterine growth retardation (IUGR) - Pre- and postnatal growth failure HEAD & NECK Head - Microcephaly (mean, -5.4 SD) - Relative macrocephaly Face - Micrognathia - Frontal bossing (in some patients) Ears - Small ears - Low-set ears - Posteriorly rotated ears Nose - Long nose - Thin nose Teeth - Crowded dentition Neck - Short neck - Wide neck ABDOMEN Gastrointestinal - Feeding difficulties GENITOURINARY External Genitalia (Male) - Hypospadias - Micropenis (rare) Internal Genitalia (Male) - Cryptorchidism, bilateral SKELETAL - Osteopenia (in some patients) Skull - Microcephaly Spine - Scoliosis (uncommon) Pelvis - Developmental dysplasia of the hip Limbs - Metaphyseal dysplasia - Small or absent patella (uncommon) Hands - Clinodactyly (uncommon) SKIN, NAILS, & HAIR Skin - Cafe-au-lait patches (in some patients) - Eczema (uncommon) - Livedo, intermittent (rare) NEUROLOGIC Central Nervous System - Pituitary hypoplasia - Seizures (uncommon) ENDOCRINE FEATURES - Congenital adrenal hypoplasia - Growth hormone deficiency IMMUNOLOGY - Increased infections - Immunodeficiency - Low CD3+/CD8+ cells (in some patients) - Low CD19+ cells (in some patients) - Low NK cells (in some patients) - Low CD3+/CD4+ cells (rare) - Low or undetectable IgM (in some patients) - Low IgG (in some patients) - High IgA (in some patients) - Low IgA (rare) NEOPLASIA - T-cell lymphoma (rare) - Hodgkin lymphoma (rare) MOLECULAR BASIS - Caused by mutation in the epsilon DNA polymerase (POLE, 174762.0003 ) ▲ Close
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Low Isolated Anorectal Malformation
Orphanet
Low anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies lying below the ischial tuberosity (e.g., anovestibular fistula in female, perineal and anocutaneous fistulas, and anal stenosis).
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Oculocerebrorenal Syndrome
Wikipedia
Oculocerebrorenal syndrome Other names Lowe syndrome Oculocerebrorenal syndrome is X-linked recessive . ... Cite journal requires |journal= ( help ) ^ a b "Lowe's (Oculo-Cerebro-Renal) Syndrome | Doctor | Patient" . ... PMID 20301653 . update 2012 ^ "OMIM Entry - # 309000 - LOWE OCULOCEREBRORENAL SYNDROME; OCRL" . omim.org . ... PMID 22790198 . ^ a b Reference, Genetics Home. "Lowe syndrome" . Genetics Home Reference . ... ISBN 9780195366457 . Retrieved 21 December 2016 . ^ Lowe CU, Terrey M, MacLachlan EA (1952).
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Serous Tumour
Wikipedia
They are common neoplasms with a strong tendency to occur bilaterally, and they account for approximately a quarter of all ovarian tumors. Contents 1 Low grade 2 High grade 3 Epidemiology 4 See also 5 References 6 External links Low grade [ edit ] The "low grade" classification of serous tumors includes benign and borderline tumors, as well as low grade malignant tumors. ... Stromal invasion distinguishes borderline tumors from low grade malignant tumors. [1] Surgery is curative for benign tumors, and likely curative for other low grade tumors. ... Approximately 15% of serous tumors are borderline. [1] In borderline tumors and low grade carcinomas, psammoma bodies are often found. Serous psammocarcinoma is a low grade variant in which massive psammoma bodies are present. [1] High grade [ edit ] A high-grade serous carcinoma arising from a borderline serous tumor : A. Low-magnification view shows a focal high-grade serous carcinoma developing from the papillae (square) in a background of a typical serous borderline tumor.
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Low-Grade Neuroendocrine Tumor Of The Corpus Uteri
Orphanet
Low-grade neuroendocrine tumor of the corpus uteri is an extremely rare uterine cancer typically characterized by a well demarcated, solid, frequently pedunculated tumor originating from neuroendocrine cells scattered within the endometrium, often associated with ectopic hormone production.
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Hypothyroidism, Congenital, Nongoitrous, 6
Omim
Neuropsychologic assessment showed restricted adaptive behavior and significant impairments in selected cognitive domains. Laboratory analysis revealed low-normal or subnormal levels of total thyroxine and free thyroxine, high-normal or elevated levels of total triiodothyronine and free triiodothyronine, and normal levels of thyroid stimulating hormone (TSH), resulting in markedly subnormal ratios of free thyroxine to free triiodothyronine and of total thyroxine to total triiodothyronine with a very low level of circulating reverse triiodothyronine. ... Abdominal radiography revealed bowel dilatation with abnormal retention of ingested marker pellets, confirming delayed intestinal transit. The child had a low resting heart rate and blood pressure, of 71 bpm and 82/51 mm Hg, respectively, as well as basal metabolic rate (BMR) that was below normal. ... Evaluation at 6 years of age for short stature showed delayed bone age, and she was found to have low-normal IGF1 and high cholesterol levels in addition to abnormal levels of thyroid hormone. ... Her father had very similar characteristics, including short stature (3.77 SD below normal), free T4 in the low-normal range, high T3, and normal TSH, high cholesterol levels, IGF1 in the low-normal range, suppressed growth hormone stimulation, and mild cognitive deficits (IQ, 85). ... Laboratory analysis revealed anemia and slightly elevated creatine kinase and cholesterol, as well as low free thyroxine, high free triiodothyronine, and normal TSH; treatment with levothyroxine did not ameliorate any of the clinical symptoms.
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Low Sperm Count
Mayo_clinic
A low sperm count is also called oligospermia (ol-ih-go-SPUR-me-uh). ... Nonetheless, many men who have a low sperm count are still able to father a child. Symptoms The main sign of low sperm count is the inability to conceive a child. ... Risk factors A number of risk factors are linked to low sperm count and other problems that can cause low sperm count. ... When sperm concentration is extremely low, genetic causes could be involved.NR0B1, FSHB, NOS3, PIWIL3, PIWIL4, BRWD1, TPCN1, CDC14A, CGA, ESR1, DICER1, BSCL2, DAZ1, CFTR, SPATA20, DDX3Y, DAZ2, USP9Y, DAZ3, DAZ4, RBMY1A1, ARMC2, BRD2, NR3C1, LHCGR, STRC, ANTXR1, SUN5, CATSPER1, CATSPER2, HOXD13, PMFBP1, CNBP, CEP19, AZF1, TSPY1, POC1A, ADGRG2, MTHFR, AR, FSHR, BOLL, GSTM1, PRM1, USP26, CDY1, MLH1, IGF2, PRM2, DAZL, GSTT1, MSH5, SPO11, CCNA1, BPY2, MLH3, ARTN, TNF, PGAM1, POLG, AGRP, DDX4, MEG3, SOD1, MAEL, CASP3, BPY2C, MEST, DNMT1, GSTP1, EGF, SLC10A6, SEPTIN12, NR5A1, BPY2B, FASLG, STS, MIR19B1, MIR139, TBC1D9, GOLGA2P3Y, MIR210, ANO1, PRMT6, GSTK1, RBMY1D, DDX25, MIR34C, UHRF1, RBMY2DP, FAM47C, HPGDS, PABPC1, CD24, PRPF31, MIR1260A, HOTTIP, LINC01672, COMETT, NCAPD3, SIRPG, STRA8, HAUS7, IFT74, HSFY1, HORMAD1, PYGO2, WDR20, CYP2R1, SLCO6A1, JAM3, TEX101, SIRPA, ESX1, VPS13B, TET1, WLS, PRDM9, H2BW1, HSFY2, MARCKSL1, CASD1, TDRD6, IZUMO1, TUSC1, PERP, TTTY2, AICDA, NLRP14, GOLGA2P2Y, UBR2, PARP1, SETX, IFNA13, GNRHR, HLA-A, HLA-B, HLA-C, HLA-DQA1, HLA-DQB1, HMOX1, IFNA1, IGF1, ATXN3, IL2, INSL3, KCNK3, KIT, LCT, LDHC, SMAD4, MAGEB4, GNAS, EPHX2, EGR4, DNMT3B, AMH, ANK2, ANXA5, APCS, FAS, BRCA1, BRCA2, DDR1, CDK2, CLU, CREM, CSNK2A2, CYP2D6, CYP17A1, DMRT1, DMWD, DNMT3A, KITLG, ABCC1, RABL2B, PROM1, TP53, UBE2B, WNT3, XIST, XPC, ZNF214, ZNF215, DLK1, SNURF, MSH2, DIRAS3, SLC16A7, SLC22A6, REC8, KATNB1, CARM1, CTCF, GTF2A1L, SRD5A2, SPINK2, SOX5, SOD2, MTR, RNR2, OAT, CLDN11, OTSC1, PABPC3, PGR, ABCB1, PMS2, PRB3, SRGN, PRL, PRPS2, RPS6KA2, ATXN1, SEMG1, SOAT1, H19-ICR
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Multilocular Cystic Renal Neoplasm Of Low Malignant Potential
Orphanet
Multilocular cystic renal neoplasm of low malignant potential is a rare subtype of clear cell renal cell carcinoma with distinct pathological features of cysts lined by occasionally flattened cuboidal clear cells and septa containing aggregates of epithelial cells with clear cytoplasm, and excellent prognosis.
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Shwachman-Diamond Syndrome 2
Omim
They had diarrhea and steatorrhea due to exocrine pancreatic insufficiency, with low stool elastase levels, low blood lipase and elastase, decreased vitamin E, and abnormal coagulation tests. Other features included hypotonia, severe neurodevelopmental delay, microcephaly, low-set ears, high-arched palate, rhizomelic shortening of the limbs, and short fingers. ... Laboratory evaluation in the Palestinian patients showed progressively profound neutropenia, progressive normocytic anemia with low reticulocyte count, and fluctuating thrombocytopenia. ... INHERITANCE - Autosomal recessive GROWTH Height - Short stature Other - Failure to thrive HEAD & NECK Head - Microcephaly (in some patients) Ears - Low-set ears Eyes - Severe myopia Mouth - High-arched palate RESPIRATORY Larynx - Subglottic stenosis (rare) - Posterior laryngeal cleft (rare) - Laryngomalacia (rare) Lung - Recurrent infections CHEST Ribs Sternum Clavicles & Scapulae - Metaphyseal widening of ribs - Metaphyseal irregularity of ribs - Cupping of anterior ribs ABDOMEN Liver - Hepatomegaly, mild Pancreas - Exocrine pancreatic insufficiency - Hyperechogenic pancreas - Fatty infiltration of pancreas Gastrointestinal - Diarrhea - Steatorrhea SKELETAL Skull - Microcephaly Limbs - Rhizomelic shortening of limbs - Metaphyseal irregularity of long bones - Metaphyseal widening of femora - Genu varum Hands - Short fingers MUSCLE, SOFT TISSUES - Hypotonia in infancy NEUROLOGIC Central Nervous System - Psychomotor delay HEMATOLOGY - Neutropenia, persistent or intermittent - Normocytic anemia - Low reticulocyte count - Thrombocytopenia, intermittent - Prolonged prothrombin time (PT) - Prolonged partial thromboplastin time (PTT) IMMUNOLOGY - Antibody deficiency (rare) - Poor immune memory (rare) LABORATORY ABNORMALITIES - Low stool elastase levels - Low blood elastase levels - Low blood lipase levels - Reduced vitamin E levels - Reduced vitamin A levels MISCELLANEOUS - Without pancreatic enzyme replacement therapy, patients die in infancy MOLECULAR BASIS - Caused by mutation in the elongation factor-like GTPase-1 gene (EFL, 617538.0001 ) ▲ CloseSBDS, DNAJC21, SRP54, EFL1, SERPINI2, RPS19, TYW1, EIF6, TP53, CSF3, SMAD2, TGFB3, TGFB1, TST, CLLS2, TAL1, YWHAE, ACTB, TPST1, SOD2, SDS, ARHGEF12, SF3B1, L3MBTL1, TET2, SBDSP1, IKZF1, RPL4, SLC6A3, FHIT, ATM, RUNX1, CEBPA, CEBPB, CFTR, TPP1, CYBB, CYP2E1, FRA7G, ALB, GDF9, LYZ, MYC, PAFAH1B1, PTEN, PRPH2, RMRP, RPA1, ASXL1
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Low Density Lipoprotein, Variation In Molecular Weight Of
Omim
Fisher et al. (1975) found that the molecular weight of monodisperse human plasma low density lipoprotein (LDL) varies very little in a specific individual and is not related to age, sex, hyperlipemia or vulnerability to early coronary artery disease, whereas the range of variation in a group of 69 persons was rather wide.
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Polyendocrine-Polyneuropathy Syndrome
Omim
Their puberty was incomplete and they had low testicular volumes; all had a normal sense of smell. ... Hormone assessment in adulthood showed an increase in HbA1c levels, with low insulin levels in an intravenous glucose tolerance test and subnormal basal C-peptide levels. In addition, the patients had low serum-free T4 with normal thyroid-stimulating hormone (TSH; see 188540) levels; the effects of thyrotropin-releasing hormone (TRH; 613879) administration were consistent with central hypothyroidism of hypothalamic origin. All 3 brothers had low plasma testosterone levels for their age, as well as low luteinizing hormone (LH; see 152780) and follicle-stimulating hormone (FSH; see 136530) concentrations. ... Animal Model Tata et al. (2014) performed conditional heterozygous deletion of Dmxl2 in mouse neurons and observed delayed puberty as well as very low fertility; the reproductive phenotype was associated with a reduced number of GnRH neurons in the hypothalamus of adult mice.
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Chromosome 16q22 Deletion Syndrome
Omim
A review of this patient by Fujiwara et al. (1992) noted low birth weight, failure to thrive, hypotonia, and poor suck. The patient reported by Fryns et al. (1977) also had a large anterior fontanel, high forehead, prominent metopic suture, broad nasal bridge, hypertelorism, low-set abnormal ears, small upslanted palpebral fissures, micrognathia, short neck, and broad toes. Rivera et al. (1985) reported an infant with a de novo interstitial deletion of chromosome 16q21-q23. He had very low birth weight and length, small head, joint contractures, and poor suck. Dysmorphic features included relatively large skull with brachycephaly, high forehead, prominent metopic suture, hypertelorism, small nose with flat bridge, long philtrum, thin lips, micrognathia, arched palate, low-set ears, short neck, and brachydactyly. ... Dysmorphic features included prominent forehead, wide anterior fontanel, diastasis of cranial sutures, blepharostenosis, hypertelorism, broad nasal bridge, low-set and deformed ears, and short neck.
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Dna, Low-Repetitive Sequences Of
Omim
By in situ hybridization, Devine et al. (1985) mapped 4 recombinant DNA clones carrying low-repetitive human DNA. One (their H7) mapped to the satellite regions of chromosomes 13, 14, 15, 21, and 22 and the centromere region of chromosome 1.
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Hypolipoproteinemia
Gard
Hypolipoproteinemia refers to unusually low levels of fats (lipids) in the blood. Low lipid levels may be caused by rare genetic conditions, or be a sign of another disorder such as overactive thyroid, anemia, undernutrition, cancer, chronic infection, or impaired absorption of foods from the digestive tract . ... Signs and symptoms in the the genetic or familial form of hypolipoproteinemia vary. In hypobetalipoproteinemia the low density lipoprotein (LDL) cholesterol levels are very low, yet people with this syndrome typically have no symptoms nor require treatment.
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Dopamine Beta Hydroxylase Deficiency
Gard
Symptoms typically begin in late childhood and include vomiting, dehydration, low blood pressure, especially upon standing ( orthostatic hypotension ), and low blood sugar levels ( hypoglycemia ). Low blood pressure can also cause dizziness, blurred vision, and difficulty exercising. ... Diagnosis is based on blood tests showing high dopamine levels and low norepinephrine levels. Treatment with a synthetic form of norepinephrine can reduce hypotension.
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Low Sex Drive In Women
Mayo_clinic
Bottom line: There is no magic number to define low sex drive. It varies among women. Symptoms of low sex drive in women include: Having no interest in any type of sexual activity, including masturbation Never or only seldom having sexual fantasies or thoughts Being concerned by your lack of sexual activity or fantasies When to see a doctor If you're concerned by your low desire for sex, talk to your doctor . ... Physical causes A wide range of illnesses, physical changes and medications can cause a low sex drive, including: Sexual problems. ... Exhaustion from caring for young children or aging parents can contribute to low sex drive. Fatigue from illness or surgery also can play a role in a low sex drive. ... Alternative medicine Talking about low sex drive with a doctor may be difficult for some women.