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Sample records for fraumeni syndrome lfs

  1. Li-Fraumeni Syndrome.

    PubMed

    Correa, Hernán

    2016-06-01

    Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome caused by a germline mutation of the TP53 gene on chromosome 17p13.1. It has an autosomal dominant pattern of inheritance with high penetrance. These patients have a very high lifetime cumulative risk of developing multiple malignancies and have a strong family history of early-onset malignancies. The protein p53, encoded by TP53, has a complex set of genome-preserving functions initiated during episodes of cellular stress and DNA damage. In LFS, TP53 gene mutations cause the loss of function of p53, leading to downstream events permissive for development of various malignancies throughout life. The LFS component tumors include soft tissue sarcomas, osteosarcoma, premenopausal breast cancer, brain tumors, and adrenal cortical carcinomas. Multiple types of sarcomas have been reported in association with LFS; this review article will focus on the most frequently encountered pediatric sarcomas associated with TP53 mutations. PMID:27617148

  2. Li-Fraumeni syndrome.

    PubMed

    Ossa, Carlos Andrés; Molina, Gustavo; Cock-Rada, Alicia María

    2016-06-03

    The Li-Fraumeni syndrome is characterized clinically by the appearance of tumors in multiple organs generally at an early age. This hereditary condition is caused by germinal mutations in the TP53 gene, which codifies for the tumoural suppressor gene p53. We present the case of a patient aged 31 with clinical and molecular diagnosis of Li-Fraumeni syndrome who presented two synchronous tumors: a leiomyosarcoma on the forearm and a phyllodes breast tumour. She had a family history of cancer, including a son diagnosed with a cortical adrenal carcinoma when he was three years old, who died at five from the disease. Furthermore, her maternal grandmother and great-grandmother died of stomach cancer at 56 and 60 years old, respectively, while her other great-grandmother and a great aunt presented with breast cancer at the ages of 60 and 40, respectively. After genetic counseling, complete sequencing and analysis of duplications and deletions in the TP53 gene were ordered prior to diagnosis. The molecular analysis of a DNA sample taken from peripheral blood lymphocytes revealed the germinal mutation c.527G>T (p.Cys176Phe) on exon 5 of the TP53 gene, a deleterious mutation described previously in tumoural tissues. To our knowledge, this is the first published case in Colombia of Li-Fraumeni syndrome with confirmed molecular diagnosis. The diagnosis and management of Li-Fraumeni syndrome should be performed by a multidisciplinary team, and genetic counselling should be offered to patients and their relatives.

  3. Li-Fraumeni syndrome.

    PubMed

    Ossa, Carlos Andrés; Molina, Gustavo; Cock-Rada, Alicia María

    2016-01-01

    The Li-Fraumeni syndrome is characterized clinically by the appearance of tumors in multiple organs generally at an early age. This hereditary condition is caused by germinal mutations in the TP53 gene, which codifies for the tumoural suppressor gene p53. We present the case of a patient aged 31 with clinical and molecular diagnosis of Li-Fraumeni syndrome who presented two synchronous tumors: a leiomyosarcoma on the forearm and a phyllodes breast tumour. She had a family history of cancer, including a son diagnosed with a cortical adrenal carcinoma when he was three years old, who died at five from the disease. Furthermore, her maternal grandmother and great-grandmother died of stomach cancer at 56 and 60 years old, respectively, while her other great-grandmother and a great aunt presented with breast cancer at the ages of 60 and 40, respectively. After genetic counseling, complete sequencing and analysis of duplications and deletions in the TP53 gene were ordered prior to diagnosis. The molecular analysis of a DNA sample taken from peripheral blood lymphocytes revealed the germinal mutation c.527G>T (p.Cys176Phe) on exon 5 of the TP53 gene, a deleterious mutation described previously in tumoural tissues. To our knowledge, this is the first published case in Colombia of Li-Fraumeni syndrome with confirmed molecular diagnosis. The diagnosis and management of Li-Fraumeni syndrome should be performed by a multidisciplinary team, and genetic counselling should be offered to patients and their relatives. PMID:27622479

  4. Genetics Home Reference: Li-Fraumeni syndrome

    MedlinePlus

    ... Fraumeni syndrome include breast cancer , a form of bone cancer called osteosarcoma, and cancers of soft tissues (such as muscle) ... Resources MedlinePlus (5 links) Encyclopedia: Cancer Health Topic: Bone Cancer Health Topic: Breast Cancer Health Topic: Cancer Health ...

  5. Li-Fraumeni syndrome: Discovery and future challenges - Joseph Fraumeni Symposium

    Cancer.gov

    In May 2014, NCI’s Division of Cancer Epidemiology and Genetics (DCEG) hosted Cancer Epidemiology: From Pedigrees to Populations, a scientific symposium honoring 50 years of visionary leadership by Dr. Joseph F. Fraumeni, Jr., the founding Director of DCEG. In this video, Dr. Stephen Chanock of NCI provides opening remarks. Dr. David Schottenfeld of the University of Michigan moderates a session on the search for cancer susceptibility genes. Dr. Louise Strong of University of Texas MD Anderson Cancer Center speaks about the discovery and future challenges of Li-Fraumeni syndrome research. For more information on this symposium, visit http://dceg.cancer.gov/news-events/Fraumeni-symposium-speakers.

  6. Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome

    SciTech Connect

    Frebourg, T.; Barbier, N.; Yan, Yu-xin; Friend, S.H. |; Garber, J.E.; Dreyfus, M.; Li, F.P.; Fraumeni, J. Jr.

    1995-03-01

    Germ-line mutations of the tumor-suppressor gene p53 have been observed in some families with the Li-Fraumeni syndrome (LFS), a familial cancer syndrome in which affected relatives develop a diverse set of early-onset malignancies including breast carcinoma, sarcomas, and brain tumors. The analysis of the p53 gene in LFS families has been limited, in most studies to date, to the region between exon 5 and exon 9. In order to determine the frequency and distribution of germ-line p53 mutations in LFS, we sequenced the 10 coding exons of the p53 gene in lymphocytes and fibroblast cell lines derived from 14 families with the syndrome. Germ-line mutations were observed in eight families. Six mutations were missense mutations located between exons 5 and 8. One mutation was a nonsense mutation in exon 6, and one mutation was a splicing mutation in intron 4, generating aberrant shorter p53 RNA(s). In three families, a mutation of the p53 gene was observed in the fibroblast cell line derived from the proband. However, the mutation was not found in affected relatives in two families and in the blood from the one individual, indicating that the mutation probably occurred during cell culture in vitro. In four families, no mutation was observed. This study indicates that germ-line p53 mutations in LFS are mostly located between exons 5 and 8 and that {approximately}50% of patients with LFS have no germ-line mutations in the coding region of the p53 gene. The observation of p53 mutations occurring during primary cultures of human fibroblasts shows that analysis for germ-line p53 mutations must be performed on cells that have not been grown in vitro. 49 refs., 1 fig., 4 tabs.

  7. TP53 intron 1 hotspot rearrangements are specific to sporadic osteosarcoma and can cause Li-Fraumeni syndrome

    PubMed Central

    Edison; Teo, Audrey S.M.; Madan, Babita; Zhang, Kang; Kohlmann, Wendy K.; Yao, Fei; Lee, Wah Heng; Hoi, Qiangze; Cai, Shaojiang; Woo, Xing Yi; Tan, Patrick; Jundt, Gernot; Smida, Jan; Nathrath, Michaela; Sung, Wing-Kin; Schiffman, Joshua D.; Virshup, David M.; Hillmer, Axel M.

    2015-01-01

    Somatic mutations of TP53 are among the most common in cancer and germline mutations of TP53 (usually missense) can cause Li-Fraumeni syndrome (LFS). Recently, recurrent genomic rearrangements in intron 1 of TP53 have been described in osteosarcoma (OS), a highly malignant neoplasm of bone belonging to the spectrum of LFS tumors. Using whole-genome sequencing of OS, we found features of TP53 intron 1 rearrangements suggesting a unique mechanism correlated with transcription. Screening of 288 OS and 1,090 tumors of other types revealed evidence for TP53 rearrangements in 46 (16%) OS, while none were detected in other tumor types, indicating this rearrangement to be highly specific to OS. We revisited a four-generation LFS family where no TP53 mutation had been identified and found a 445 kb inversion spanning from the TP53 intron 1 towards the centromere. The inversion segregated with tumors in the LFS family. Cancers in this family had loss of heterozygosity, retaining the rearranged allele and resulting in TP53 expression loss. In conclusion, intron 1 rearrangements cause p53-driven malignancies by both germline and somatic mechanisms and provide an important mechanism of TP53 inactivation in LFS, which might in part explain the diagnostic gap of formerly classified “TP53 wild-type” LFS. PMID:25762628

  8. TP53 intron 1 hotspot rearrangements are specific to sporadic osteosarcoma and can cause Li-Fraumeni syndrome.

    PubMed

    Ribi, Sebastian; Baumhoer, Daniel; Lee, Kristy; Edison; Teo, Audrey S M; Madan, Babita; Zhang, Kang; Kohlmann, Wendy K; Yao, Fei; Lee, Wah Heng; Hoi, Qiangze; Cai, Shaojiang; Woo, Xing Yi; Tan, Patrick; Jundt, Gernot; Smida, Jan; Nathrath, Michaela; Sung, Wing-Kin; Schiffman, Joshua D; Virshup, David M; Hillmer, Axel M

    2015-04-10

    Somatic mutations of TP53 are among the most common in cancer and germline mutations of TP53 (usually missense) can cause Li-Fraumeni syndrome (LFS). Recently, recurrent genomic rearrangements in intron 1 of TP53 have been described in osteosarcoma (OS), a highly malignant neoplasm of bone belonging to the spectrum of LFS tumors. Using whole-genome sequencing of OS, we found features of TP53 intron 1 rearrangements suggesting a unique mechanism correlated with transcription. Screening of 288 OS and 1,090 tumors of other types revealed evidence for TP53 rearrangements in 46 (16%) OS, while none were detected in other tumor types, indicating this rearrangement to be highly specific to OS. We revisited a four-generation LFS family where no TP53 mutation had been identified and found a 445 kb inversion spanning from the TP53 intron 1 towards the centromere. The inversion segregated with tumors in the LFS family. Cancers in this family had loss of heterozygosity, retaining the rearranged allele and resulting in TP53 expression loss. In conclusion, intron 1 rearrangements cause p53-driven malignancies by both germline and somatic mechanisms and provide an important mechanism of TP53 inactivation in LFS, which might in part explain the diagnostic gap of formerly classified "TP53 wild-type" LFS. PMID:25762628

  9. Hsp90 and PKM2 Drive the Expression of Aromatase in Li-Fraumeni Syndrome Breast Adipose Stromal Cells.

    PubMed

    Subbaramaiah, Kotha; Brown, Kristy A; Zahid, Heba; Balmus, Gabriel; Weiss, Robert S; Herbert, Brittney-Shea; Dannenberg, Andrew J

    2016-07-29

    Li-Fraumeni syndrome (LFS) patients harbor germ line mutations in the TP53 gene and are at increased risk of hormone receptor-positive breast cancers. Recently, elevated levels of aromatase, the rate-limiting enzyme for estrogen biosynthesis, were found in the breast tissue of LFS patients. Although p53 down-regulates aromatase expression, the underlying mechanisms are incompletely understood. In the present study, we found that LFS stromal cells expressed higher levels of Hsp90 ATPase activity and aromatase compared with wild-type stromal cells. Inhibition of Hsp90 ATPase suppressed aromatase expression. Silencing Aha1 (activator of Hsp90 ATPase 1), a co-chaperone of Hsp90 required for its ATPase activity, led to both inhibition of Hsp90 ATPase activity and reduced aromatase expression. In comparison with wild-type stromal cells, increased levels of the Hsp90 client proteins, HIF-1α, and PKM2 were found in LFS stromal cells. A complex comprised of HIF-1α and PKM2 was recruited to the aromatase promoter II in LFS stromal cells. Silencing either HIF-1α or PKM2 suppressed aromatase expression in LFS stromal cells. CP-31398, a p53 rescue compound, suppressed levels of Aha1, Hsp90 ATPase activity, levels of PKM2 and HIF-1α, and aromatase expression in LFS stromal cells. Consistent with these in vitro findings, levels of Hsp90 ATPase activity, Aha1, HIF-1α, PKM2, and aromatase were increased in the mammary glands of p53 null versus wild-type mice. PKM2 and HIF-1α were shown to co-localize in the nucleus of stromal cells of LFS breast tissue. Taken together, our results show that the Aha1-Hsp90-PKM2/HIF-1α axis mediates the induction of aromatase in LFS. PMID:27467582

  10. Easing the Burden: Describing the Role of Social, Emotional and Spiritual Support in Research Families with Li-Fraumeni Syndrome.

    PubMed

    Peters, June A; Kenen, Regina; Bremer, Renee; Givens, Shannon; Savage, Sharon A; Mai, Phuong L

    2016-06-01

    This study presents findings of a mixed-method descriptive exploration of the role of friends and spirituality/religiosity in easing the burden of families with the rare inherited disorder, Li-Fraumeni Syndrome (LFS). LFS is caused by germline mutations in the TP53 gene and is associated with very high lifetime risk of developing one or more malignancies. During the first clinical visit we assessed several types of social support among a subset of study participants (N = 66) using an established interactive research tool called the Colored Eco-Genetic Relationship Map (CEGRM). We performed both quantitative and qualitative analyses of social relationships with LFS family members and close non-kin. Distress scores (N = 59) were mostly low normal, with some outliers. We found that reported friendships varied widely, that the friendships were often deep and enduring, and were important sources of informational, tangible, emotional and spiritual support. Confidantes tended to be best friends and/or spouses. Organized religion was important in selected families, typically from mainstream traditions. However, a number of people identified themselves as "spiritual" and reported spiritual and humanist explorations. Our results shed preliminary light on how some people in families with LFS cope in the face of tremendous medical, social and emotional challenges.

  11. Divergent control of Cav-1 expression in non-cancerous Li-Fraumeni syndrome and human cancer cell lines

    PubMed Central

    Sherif, Zaki A.; Sultan, Ahmed S.

    2013-01-01

    Li-Fraumeni syndrome (LFS) is primarily characterized by development of tumors exhibiting germ-line mutations in the p53 gene. Cell lines developed from patients of a LFS family have decreased p53 activity as evidenced by the absence of apoptosis upon etoposide treatment. To test our hypothesis that changes in gene expression beyond p53 per se are contributing to the development of tumors, we compared gene expression in non-cancerous skin fibroblasts of LFS-affected (p53 heterozygous) vs. non-affected (p53 wild-type homozygous) family members. Expression analysis showed that several genes were differentially regulated in the p53 homozygous and heterozygous cell lines. We were particularly intrigued by the decreased expression (~88%) of a putative tumor-suppressor protein, caveolin-1 (Cav-1), in the p53-mutant cells. Decreased expression of Cav-1 was also seen in both p53-knockout and p21-knockout HTC116 cells suggesting that p53 controls Cav-1 expression through p21 and leading to the speculation that p53, Cav-1 and p21 may be part of a positive auto-regulatory feedback loop. The direct relationship between p53 and Cav-1 was also tested with HeLa cells (containing inactive p53), which expressed a significantly lower Cav-1 protein. A panel of nonfunctional and p53-deficient colon and epithelial breast cancer cell lines showed undetectable expression of Cav-1 supporting the role of p53 in the control of Cav-1. However, in two aggressively metastasizing breast cancer cell lines, Cav-1 was strongly expressed suggesting a possible role in tumor metastasis. Thus, there is a divergent control of Cav-1 expression as evidenced in non-cancerous Li-Fraumeni syndrome and some aggressive human cancer cell lines. PMID:23114650

  12. Whole-genome sequencing analysis of phenotypic heterogeneity and anticipation in Li–Fraumeni cancer predisposition syndrome

    PubMed Central

    Ariffin, Hany; Hainaut, Pierre; Puzio-Kuter, Anna; Choong, Soo Sin; Chan, Adelyne Sue Li; Tolkunov, Denis; Rajagopal, Gunaretnam; Kang, Wenfeng; Lim, Leon Li Wen; Krishnan, Shekhar; Chen, Kok-Siong; Achatz, Maria Isabel; Karsa, Mawar; Shamsani, Jannah; Levine, Arnold J.; Chan, Chang S.

    2014-01-01

    The Li–Fraumeni syndrome (LFS) and its variant form (LFL) is a familial predisposition to multiple forms of childhood, adolescent, and adult cancers associated with germ-line mutation in the TP53 tumor suppressor gene. Individual disparities in tumor patterns are compounded by acceleration of cancer onset with successive generations. It has been suggested that this apparent anticipation pattern may result from germ-line genomic instability in TP53 mutation carriers, causing increased DNA copy-number variations (CNVs) with successive generations. To address the genetic basis of phenotypic disparities of LFS/LFL, we performed whole-genome sequencing (WGS) of 13 subjects from two generations of an LFS kindred. Neither de novo CNV nor significant difference in total CNV was detected in relation with successive generations or with age at cancer onset. These observations were consistent with an experimental mouse model system showing that trp53 deficiency in the germ line of father or mother did not increase CNV occurrence in the offspring. On the other hand, individual records on 1,771 TP53 mutation carriers from 294 pedigrees were compiled to assess genetic anticipation patterns (International Agency for Research on Cancer TP53 database). No strictly defined anticipation pattern was observed. Rather, in multigeneration families, cancer onset was delayed in older compared with recent generations. These observations support an alternative model for apparent anticipation in which rare variants from noncarrier parents may attenuate constitutive resistance to tumorigenesis in the offspring of TP53 mutation carriers with late cancer onset. PMID:25313051

  13. Whole-genome sequencing analysis of phenotypic heterogeneity and anticipation in Li-Fraumeni cancer predisposition syndrome.

    PubMed

    Ariffin, Hany; Hainaut, Pierre; Puzio-Kuter, Anna; Choong, Soo Sin; Chan, Adelyne Sue Li; Tolkunov, Denis; Rajagopal, Gunaretnam; Kang, Wenfeng; Lim, Leon Li Wen; Krishnan, Shekhar; Chen, Kok-Siong; Achatz, Maria Isabel; Karsa, Mawar; Shamsani, Jannah; Levine, Arnold J; Chan, Chang S

    2014-10-28

    The Li-Fraumeni syndrome (LFS) and its variant form (LFL) is a familial predisposition to multiple forms of childhood, adolescent, and adult cancers associated with germ-line mutation in the TP53 tumor suppressor gene. Individual disparities in tumor patterns are compounded by acceleration of cancer onset with successive generations. It has been suggested that this apparent anticipation pattern may result from germ-line genomic instability in TP53 mutation carriers, causing increased DNA copy-number variations (CNVs) with successive generations. To address the genetic basis of phenotypic disparities of LFS/LFL, we performed whole-genome sequencing (WGS) of 13 subjects from two generations of an LFS kindred. Neither de novo CNV nor significant difference in total CNV was detected in relation with successive generations or with age at cancer onset. These observations were consistent with an experimental mouse model system showing that trp53 deficiency in the germ line of father or mother did not increase CNV occurrence in the offspring. On the other hand, individual records on 1,771 TP53 mutation carriers from 294 pedigrees were compiled to assess genetic anticipation patterns (International Agency for Research on Cancer TP53 database). No strictly defined anticipation pattern was observed. Rather, in multigeneration families, cancer onset was delayed in older compared with recent generations. These observations support an alternative model for apparent anticipation in which rare variants from noncarrier parents may attenuate constitutive resistance to tumorigenesis in the offspring of TP53 mutation carriers with late cancer onset. PMID:25313051

  14. Genomic profile of a Li-Fraumeni-like syndrome patient with a 45,X/46,XX karyotype, presenting neither mutations in TP53 nor clinical stigmata of Turner syndrome.

    PubMed

    Basso, Tatiane R; Villacis, Rolando A R; Canto, Luisa M; Alves, Vinicius M F; Lapa, Rainer M L; Nóbrega, Amanda F; Achatz, Maria I; Rogatto, Silvia R

    2015-06-01

    Li-Fraumeni syndrome (LFS) is a hereditary disorder that predisposes patients to several types of cancer and is associated with TP53 germline mutations. Turner syndrome (TS) is one of the most common aneuploidies in women. Patients with TS have a higher risk of developing cancer, although multiple malignant tumors are extremely rare. Herein, we describe a patient with a 45,X/46,XX karyotype with no classic phenotype of TS. She presented with a clinical diagnosis of Li-Fraumeni-like syndrome (LFL), showing papillary thyroid carcinoma and fibrosarcoma of the left flank, and had no TP53 germline mutations. Genome-wide analysis of copy number variations (CNVs) was assessed in DNA from peripheral blood cells and saliva. A total of 109 rare CNVs in the blood cells, including mosaic loss of the X chromosome (76% of cells), were identified. In saliva, three rare CNVs were detected, all of them were also detected in the blood cells: loss of 8q24.11 (EXT1), gain of 16q24.3 (PRDM7 and GAS8), and the mosaic loss of the X chromosome (50% of cells). Results of conventional G-banding confirmed the 45,X/46,XX karyotype. Surprisingly, the patient presented with an apparently normal phenotype. The PRDM and GAS8 genes are potential candidates to be associated with the risk of developing cancer in this LFL/TS patient.

  15. Targeted therapy for hereditary cancer syndromes: hereditary breast and ovarian cancer syndrome, Lynch syndrome, familial adenomatous polyposis, and Li-Fraumeni syndrome.

    PubMed

    Agarwal, Rishi; Liebe, Sarah; Turski, Michelle L; Vidwans, Smruti J; Janku, Filip; Garrido-Laguna, Ignacio; Munoz, Javier; Schwab, Richard; Rodon, Jordi; Kurzrock, Razelle; Subbiah, Vivek

    2014-12-01

    Cancer genetics has rapidly evolved in the last two decades. Understanding and exploring the several genetic pathways in the cancer cell is the foundation of targeted therapy. Several genomic aberrations have been identified and their role in carcinogenesis is being explored. In contrast to most cancers where these mutations are acquired, patients with hereditary cancer syndromes have inherited genomic aberrations. The understanding of the molecular pathobiology in hereditary cancer syndromes has advanced dramatically. In addition, many molecularly targeted therapies have been developed that could have potential roles in the treatment of patients with hereditary cancer syndromes. In this review, we outline the presentation, molecular biology, and possible targeted therapies for two of the most widely recognized hereditary cancer syndromes -- hereditary breast and ovarian cancer syndrome and hereditary non-polyposis colorectal cancer syndrome (Lynch syndrome). We will also discuss other syndromes such as familial adenomatous polyposis and Li-Fraumeni syndrome (TP53). PMID:25549704

  16. Expression of platelet derived growth factor and platelet derived growth factor receptor mRNA in a glioblastoma from a patient with Li-Fraumeni syndrome.

    PubMed Central

    Guha, A; Glowacka, D; Carroll, R; Dashner, K; Black, P M; Stiles, C D

    1995-01-01

    Expression of platelet derived growth factor (PDGF) and PDGF-receptor mRNA was examined from a glioblastoma taken from a patient with Li-Fraumeni syndrome. Northern blot analysis and in situ hybridisation showed very high concentrations of both PDGF-A and PDGF alpha-receptor mRNA in the tumour. The overall pattern of PDGF expression was similar to those found in sporadic glioblastomas. Mutations in p53 has been implicated as an early pathogenic event leading to sporadic low grade astrocytomas, and is the third most common tumour type in patients with Li-Fraumeni syndrome, where they are predisposed due to a germline mutation in the p53 tumour suppressor gene. This study suggests that progression towards a glioblastoma in both the general population and in patients with Li-Fraumeni syndrome may involve potential autocrine and paracrine stimulation by growth factors such as PDGF. Images PMID:7608673

  17. [Radiation-induced intracranial osteosarcoma after radiation for acute lymphocytic leukemia associated with Li-Fraumeni syndrome].

    PubMed

    Yoshimura, Junichi; Natsumeda, Manabu; Nishihira, Yasushi; Nishiyama, Kenichi; Saito, Akihiko; Okamoto, Kouichirou; Takahashi, Hitoshi; Fujii, Yukihiko

    2013-06-01

    A 28-year-old man presented with osteosarcoma of the occipital bone 16 years after 24 Gy of craniospinal irradiation for acute lymphocytic leukemia. The tumor had both intra- and extra-cranial components. However, the affected skull appeared to be normal on imaging because of permeative infiltration by the tumor. Subtotal resection was achieved and the tumor was verified histologically as an osteosarcoma. The residual tumor soon showed remarkable enlargement and disseminated to the spinal cord. Both of the enlarged and disseminated tumor masses were treated by surgical intervention and chemotherapy. However, the patient deteriorated due to the tumor regrowth and died 11 months after the initial diagnosis. This patient had previously developed a leukemia, a colon cancer, a rectal cancer and a hepatocellular carcinoma. His brother also died of leukemia. The patient had a heterozygous TP53 germ-line mutation of codon 248 in the exon 7. In conclusion, we consider the present tumor to be a rare example of radiation-induced skull osteosarcoma in a member of the cancer-prone family with TP53 germ-line mutation which is associated with Li-Fraumeni syndrome.

  18. Fourth Primary Malignant Tumor in a Patient with Possible Li-Fraumeni Syndrome: Synchronous Diagnosis of Postirradiation Sarcoma, Cutaneous Relapse of a Previous Soft Tissue Sarcoma, and Lung Adenocarcinoma

    PubMed Central

    Yumrukçal, Feridun; Dirik, Yalin; Çinar, Arda; Eralp, Levent

    2014-01-01

    We present a 46-year-old female patient who is diagnosed with synchronous postirradiation sarcoma, cutaneous relapse of a previous soft tissue sarcoma, and lung adenocarcinoma. More than one malignant tumor at the same time with an accompanying relapse of a previous malignant tumor is a rare entity. A relatively young patient diagnosed with adenocarcinoma of the urethra before age 40, which is an unusual tumor for that age, later three more different malignant tumors being diagnosed, two of which are synchronous, causes the suspicion of Li-Fraumeni syndrome. PMID:25506014

  19. Successful treatment of a patient with Li–Fraumeni syndrome and metastatic lung adenocarcinoma harboring synchronous EGFR L858R and ERBB2 extracellular domain S310F mutations with the pan-HER inhibitor afatinib

    PubMed Central

    Jia, Yuxia; Ali, Siraj M; Saad, Shumaila; Chan, Courtney A; Miller, Vincent A; Halmos, Balazs

    2014-01-01

    We report the case of a young, never-smoker woman with Li–Fraumeni syndrome and advanced lung adenocarcinoma refractory to multiple lines of conventional chemotherapy and negative for actionable alterations by routine testing. Comprehensive genomic profiling by clinical-grade next generation sequencing was performed on 3320 exons of 184 cancer-related genes and 37 introns of 14 genes frequently rearranged in cancer. The tumor was found to harbor both EGFR L858R and ERBB2 S310F alterations and also tested positive for a known TP53 germline mutation. The presence of the EGFR mutation was further validated by direct sequencing. Based on these results, a dual EGFR/ERBB2 inhibitor, afatinib, was chosen for treatment. The patient achieved a rapid, complete, and durable response to afatinib monotherapy, both clinically and radiographically. The treatment was very well tolerated. This unique case raises practical questions as to the challenges of molecular testing and highlights the potential association of p53 mutations with concurrent EGFR and ERBB2 aberrations. As this case powerfully illustrates, the combination of broad genomic profiling and targeted therapy guided by mutational analysis offers the possibility of precision management of refractory advanced adenocarcinoma in the background of neoplastic syndromes. PMID:24835218

  20. Inheritance of abnormal expression of SOS-like response in xeroderma pigmentosum and hereditary cancer-prone syndromes.

    PubMed

    Abrahams, P J; Houweling, A; Cornelissen-Steijger, D M; Arwert, F; Menko, F H; Pinedo, H M; Terleth, C; van der Eb, A J

    1996-06-01

    The time course of induction of SOS-like stress responses such as enhanced reactivation (ER) and enhanced mutagenesis (EM) has been investigated in UV-C-irradiated skin fibroblasts from a xeroderma pigmentosum (XP) family, using herpes simplex virus type 1 as a probe. Similar ER studies were performed in a Li-Fraumeni syndrome (LFS) family and in a family with a high incidence of breast, ovarian, and colon cancer. In two XP (complementation group B) patients, with a striking absence of skin tumors even at an age of >40 years, only induction of EM was observed, whereas ER was absent (XPER-). The ER- phenotype was inherited from the father, whereas cells from the mother exhibited normal expression of ER and EM. This suggests that the absence of ER is a hereditary trait that is not correlated with a repair-deficient phenotype. Abnormally high levels of ER were observed in UV-C-exposed skin fibroblasts from rive LFS patients. The inheritance of the ER response was studied in one LFS family. High levels of ER were observed only in cells derived from affected individuals carrying one mutated p53 allele, whereas cells from unaffected family members, carrying two wild-type p53 alleles, exhibited normal ER levels. This result shows that abnormally high levels of ER positively correlate with the occurrence of cancer in affected individuals from a LFS family. Interestingly, abnormally high levels of ER were observed in cells from afflicted as well as from unafflicted members of a family with a high incidence of breast, ovarian, colon, and stomach cancer. This suggests that these latter individuals have inherited a mutated, putative predisposing gene, resulting in abnormal expression of ER, but that cancer had not yet developed. The results indicate that the ER response can possibly be used as a prognostic marker to identify carriers in various hereditary cancer-prone syndromes at an early age. PMID:8653707

  1. Video from Panel Discussion with Joseph Fraumeni and David Schottenfeld

    Cancer.gov

    Video footage from Panel Discussion with Joseph Fraumeni and David Schottenfeld on Cancer Epidemiology over the Last Half-Century and Thoughts on the Future. The discussion took place on May 11, 2012, when DCEG hosted Dr. Schottenfeld as a Visiting Scholar.

  2. Oral Cancer-related Inherited Cancer Syndromes: A Comprehensive Review.

    PubMed

    Sarode, Gargi S; Batra, Akshit; Sarode, Sachin C; Yerawadekar, Sujata; Patil, Shankargouda

    2016-01-01

    Oral squamous cell carcinoma is the most common malignancy of the oral cavity, which is usually preceded by a myriad of oral potentially malignant disorders (OPMDs). In the classification of OPMDs, inherited cancer syndromes (ICSs) were proposed as one of the categories. Inherited cancer syndromes are genetic disorders in which inherited genetic mutation in one or more genes predispose the affected individuals to the development of cancer and may also cause its early onset. Many of these syndromes are caused by mutations in tumor suppressor genes, oncogenes, and genes involved in angiogenesis. General dental practitioners frequently come across OPMDs in their day-to-day practice. It becomes of paramount importance to have knowledge about these rare but prognostically important OPMDs. With this view in mind, in this article, efforts have been made to comprehensively discuss about various ICSs that have higher potential of transformation into oral cancer. The ICSs discussed in this article are xeroderma pigmentosum (XP), ataxia telangiectasia (AT), Bloom syndrome (BS), Fanconi's anemia (FA), and Li-Fraumeni syndrome (LFS), with special emphasis on signs, symptoms, and genetic considerations. PMID:27484606

  3. DCEG Symposium to Honor Joseph F. Fraumeni, Jr. | Poster

    Cancer.gov

    By Nancy Parrish, Staff Writer On May 6, the Division of Cancer Epidemiology and Genetics (DCEG) will sponsor a symposium to honor 50 years of leadership from its founding director, Joseph F. Fraumeni, Jr., M.D., who stepped down from the position in July 2012. The conference, entitled “Cancer Epidemiology: From Pedigrees to Populations,” will highlight critical findings in cancer epidemiology from the last 50 years, as well as opportunities for future research directions. Long History of Leadership and Discovery

  4. Inhibition of platelet activation by lachrymatory factor synthase (LFS)-silenced (tearless) onion juice.

    PubMed

    Thomson, Susan J; Rippon, Paula; Butts, Chrissie; Olsen, Sarah; Shaw, Martin; Joyce, Nigel I; Eady, Colin C

    2013-11-01

    Onion and garlic are renowned for their roles as functional foods. The health benefits of garlic are attributed to di-2-propenyl thiosulfinate (allicin), a sulfur compound found in disrupted garlic but not found in disrupted onion. Recently, onions have been grown with repressed lachrymatory factor synthase (LFS) activity, which causes these onions to produce increased amounts of di-1-propenyl thiosulfinate, an isomer of allicin. This investigation into the key health attributes of LFS-silenced (tearless) onions demonstrates that they have some attributes more similar to garlic and that this is likely due to the production of novel thiosulfinate or metabolites. The key finding was that collagen-induced in vitro platelet aggregation was significantly reduced by tearless onion extract over normal onion extract. Thiosulfinate or derived compounds were shown not to be responsible for the observed changes in the inflammatory response of AGS (stomach adenocarcinoma) cells to tumor necrosis factor alpha (TNFα) when pretreated with model onion juices. A preliminary rat feeding trial indicated that the tearless onions may also play a key role in reducing weight gain.

  5. Inhibition of platelet activation by lachrymatory factor synthase (LFS)-silenced (tearless) onion juice.

    PubMed

    Thomson, Susan J; Rippon, Paula; Butts, Chrissie; Olsen, Sarah; Shaw, Martin; Joyce, Nigel I; Eady, Colin C

    2013-11-01

    Onion and garlic are renowned for their roles as functional foods. The health benefits of garlic are attributed to di-2-propenyl thiosulfinate (allicin), a sulfur compound found in disrupted garlic but not found in disrupted onion. Recently, onions have been grown with repressed lachrymatory factor synthase (LFS) activity, which causes these onions to produce increased amounts of di-1-propenyl thiosulfinate, an isomer of allicin. This investigation into the key health attributes of LFS-silenced (tearless) onions demonstrates that they have some attributes more similar to garlic and that this is likely due to the production of novel thiosulfinate or metabolites. The key finding was that collagen-induced in vitro platelet aggregation was significantly reduced by tearless onion extract over normal onion extract. Thiosulfinate or derived compounds were shown not to be responsible for the observed changes in the inflammatory response of AGS (stomach adenocarcinoma) cells to tumor necrosis factor alpha (TNFα) when pretreated with model onion juices. A preliminary rat feeding trial indicated that the tearless onions may also play a key role in reducing weight gain. PMID:24147811

  6. Current status of familial gastrointestinal polyposis syndromes

    PubMed Central

    Jung, Ioan; Gurzu, Simona; Turdean, Gligore Sabin

    2015-01-01

    Because of the rarity of familial gastrointestinal cancer-predisposing syndromes, their exploration in literature is not extensive. In this review, an update of the clinicopathological and molecular criteria of gastrointestinal familial polyposis syndromes with potential malignant transformation is performed. In addition, a guide for screening and surveillance was synthesized and a distribution of gene mutations according to the specific syndromes and geographic distribution was included. The following inherited polyposes syndromes were analyzed: familial adenomatous polyposis, the hamartomatous familial polyposes (Juvenile polyposis, Peutz-Jeghers syndrome, Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, hereditary mixed polyposis syndrome, Gorlin syndrome, Birt-Hogg-Dube syndrome, neurofibromatosis type I and multiple endocrine neoplasia syndrome 2B), Li-Fraumeni syndrome, and MUTYH-associated adenomatous polyposis. For proper medical care, subspecialization of gastroenterologists, pathologists, and genticists in the field of familial diseases should be introduced in the medical curriculum. PMID:26600934

  7. Familial risk of childhood cancer and tumors in the Li-Fraumeni spectrum in the Utah Population Database: implications for genetic evaluation in pediatric practice.

    PubMed

    Curtin, Karen; Smith, Ken R; Fraser, Alison; Pimentel, Richard; Kohlmann, Wendy; Schiffman, Joshua D

    2013-11-15

    We used the Utah Population Database to examine risk of cancer in relatives of 4,482 pediatric cancer cases (≤18 years old) diagnosed from 1966 to 2009 compared to matched population controls. We quantified cancer risk in relatives of children with cancer to determine evidence of familial aggregation and to inform risk assessment and counseling for families. Odds ratios that reflect risk were obtained using conditional logistic regression models adjusting for number of biological relatives, their degree of genetic relatedness and their person-years at risk. First-degree relatives (primarily siblings) of pediatric cases faced a twofold increased risk of a cancer diagnosis before age 19, which extended to their second-degree relatives (p < 10(-4), respectively). Furthermore, first-degree relatives of children diagnosed before age 5 had a 3.6-fold increased risk of developing pediatric cancer (p < 10(-7)), second-degree relatives of very young (under age 5) cases were at 2.5-fold risk (p < 10(-4)) and third-degree relatives were at twofold risk (P < 10(-3)) of childhood cancer. Although first-degree relatives of pediatric cases have a slight increased risk of adult tumors, when they do develop cancer they have a 1.7-fold risk of developing a tumor in the Li-Fraumeni spectrum. Our findings support the hypothesis of familial aggregation in pediatric cancer and suggest that a higher percent of childhood cancers may be related to hereditary syndromes than are adult cancers. We encourage the collection of a family medical history that is routinely updated for all pediatric cancer patients, and that families with early-onset adult cancers or clusters of several cancers are referred for genetic counseling.

  8. Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?

    PubMed

    Hackmann, Karl; Rump, Andreas; Haas, Stefan A; Lemke, Johannes R; Fryns, Jean-Pierre; Tzschach, Andreas; Wieczorek, Dagmar; Albrecht, Beate; Kuechler, Alma; Ripperger, Tim; Kobelt, Albrecht; Oexle, Konrad; Tinschert, Sigrid; Schrock, Evelin; Kalscheuer, Vera M; Di Donato, Nataliya

    2016-01-01

    The clinical diagnosis of Lujan-Fryns syndrome (LFS) comprises X-linked intellectual disability (XLID) with marfanoid habitus, distinct combination of minor facial anomalies and nasal speech. However the definition of syndrome was significantly broadened since the original report and implies ID with marfanoid habitus. Mutations of three genes (MED12, UPF3B, and ZDHHC9) have been reported in "broadly defined" LFS. We examined these genes in 28 individuals with a tentative clinical diagnosis of LFS but we did not identify any causative mutation. By molecular karyotyping we detected other disorders, i.e., Phelan-McDermid syndrome and 16p11.2 microduplication, each in one patient. One affected individual was carrier of a different recurrent duplication on 16p11.2 that has been reported several times to the DECIPHER and ISCA databases in individuals with autism, intellectual disability (ID), and developmental delay. It may represent a new duplication syndrome. We also identified previously unreported de novo duplication on chromosome 12p13.31 which we considered to be disease-causing. X-exome sequencing of four individuals revealed private or non-recurrent mutations in NKAP and LAS1L in one patient each. While LFS is defined as a form of XLID, there seem to be various conditions that have rather similar phenotypes. Therefore, the combination of ID and marfanoid habitus in a male patient is not sufficient for the diagnosis of LFS. We suggest that the diagnosis of LFS in patients with ID and marfanoid habitus should be made only in presence of specific facial features, nasal speech and obvious X-linked segregation of the disorder or an unambiguously pathogenic mutation in the MED12. PMID:26358559

  9. Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?

    PubMed

    Hackmann, Karl; Rump, Andreas; Haas, Stefan A; Lemke, Johannes R; Fryns, Jean-Pierre; Tzschach, Andreas; Wieczorek, Dagmar; Albrecht, Beate; Kuechler, Alma; Ripperger, Tim; Kobelt, Albrecht; Oexle, Konrad; Tinschert, Sigrid; Schrock, Evelin; Kalscheuer, Vera M; Di Donato, Nataliya

    2016-01-01

    The clinical diagnosis of Lujan-Fryns syndrome (LFS) comprises X-linked intellectual disability (XLID) with marfanoid habitus, distinct combination of minor facial anomalies and nasal speech. However the definition of syndrome was significantly broadened since the original report and implies ID with marfanoid habitus. Mutations of three genes (MED12, UPF3B, and ZDHHC9) have been reported in "broadly defined" LFS. We examined these genes in 28 individuals with a tentative clinical diagnosis of LFS but we did not identify any causative mutation. By molecular karyotyping we detected other disorders, i.e., Phelan-McDermid syndrome and 16p11.2 microduplication, each in one patient. One affected individual was carrier of a different recurrent duplication on 16p11.2 that has been reported several times to the DECIPHER and ISCA databases in individuals with autism, intellectual disability (ID), and developmental delay. It may represent a new duplication syndrome. We also identified previously unreported de novo duplication on chromosome 12p13.31 which we considered to be disease-causing. X-exome sequencing of four individuals revealed private or non-recurrent mutations in NKAP and LAS1L in one patient each. While LFS is defined as a form of XLID, there seem to be various conditions that have rather similar phenotypes. Therefore, the combination of ID and marfanoid habitus in a male patient is not sufficient for the diagnosis of LFS. We suggest that the diagnosis of LFS in patients with ID and marfanoid habitus should be made only in presence of specific facial features, nasal speech and obvious X-linked segregation of the disorder or an unambiguously pathogenic mutation in the MED12.

  10. Update on pediatric cancer predisposition syndromes.

    PubMed

    Schiffman, Joshua D; Geller, James I; Mundt, Erin; Means, Anthony; Means, Lindsey; Means, Von

    2013-08-01

    Hereditary cancer syndromes in children and adolescents are becoming more recognized in the field of pediatric hematology/oncology. A recent workshop held at the American Society of Pediatric Hematology/Oncology (ASPHO) 2012 Annual Meeting included several interactive sessions related to specific familial cancer syndromes, genetic testing and screening, and ethical issues in caring for families with inherited cancer risk. This review highlights the workshop presentations, including a brief background about pediatric cancer predisposition syndromes and the importance of learning about them for the practicing pediatric hematologists/oncologists. This is followed by a brief summary of the newly described cancer predisposition syndromes including Rhabdoid Tumor Predisposition Syndrome, Hereditary Paragangliomas and Pheochromocytoma Syndrome, and Familial Pleuropulmonaryblastoma Tumor Predisposition (DICER1) Syndrome. The next section covers genetic testing and screening for pediatric cancer predisposition syndromes. Ethical issues are also discussed including preimplantation genetic diagnosis or testing (PGD/PGT), suspicious lesions found on tumor screening, and incidental mutations discovered by whole genome sequencing. Finally, the perspective of a family with Li-Fraumeni Syndrome is shared.

  11. Update on pediatric cancer predisposition syndromes.

    PubMed

    Schiffman, Joshua D; Geller, James I; Mundt, Erin; Means, Anthony; Means, Lindsey; Means, Von

    2013-08-01

    Hereditary cancer syndromes in children and adolescents are becoming more recognized in the field of pediatric hematology/oncology. A recent workshop held at the American Society of Pediatric Hematology/Oncology (ASPHO) 2012 Annual Meeting included several interactive sessions related to specific familial cancer syndromes, genetic testing and screening, and ethical issues in caring for families with inherited cancer risk. This review highlights the workshop presentations, including a brief background about pediatric cancer predisposition syndromes and the importance of learning about them for the practicing pediatric hematologists/oncologists. This is followed by a brief summary of the newly described cancer predisposition syndromes including Rhabdoid Tumor Predisposition Syndrome, Hereditary Paragangliomas and Pheochromocytoma Syndrome, and Familial Pleuropulmonaryblastoma Tumor Predisposition (DICER1) Syndrome. The next section covers genetic testing and screening for pediatric cancer predisposition syndromes. Ethical issues are also discussed including preimplantation genetic diagnosis or testing (PGD/PGT), suspicious lesions found on tumor screening, and incidental mutations discovered by whole genome sequencing. Finally, the perspective of a family with Li-Fraumeni Syndrome is shared. PMID:23625733

  12. Modeling Familial Cancer with Induced Pluripotent Stem Cells

    PubMed Central

    Lee, Dung-Fang; Su, Jie; Kim, Huen Suk; Chang, Betty; Papatsenko, Dmitri; Zhao, Ruiying; Yuan, Ye; Gingold, Julian; Xia, Weiya; Darr, Henia; Mirzayans, Razmik; Hung, Mien-Chie; Schaniel, Christoph; Lemischka, Ihor R.

    2015-01-01

    SUMMARY In vitro modeling of human disease has recently become feasible with induced pluripotent stem cell (iPSC) technology. Here, we established patient-derived iPSCs from a Li-Fraumeni Syndrome (LFS) family and investigated the role of mutant p53 in the development of osteosarcoma (OS). LFS iPSC-derived osteoblasts (OBs) recapitulated OS features including defective osteoblastic differentiation as well as tumorigenic ability. Systematic analyses revealed that the expression of genes enriched in LFS-derived OBs strongly correlated with decreased time to tumor recurrence and poor patient survival. Furthermore, LFS OBs exhibited impaired upregulation of the imprinted gene H19 during osteogenesis. Restoration of H19 expression in LFS OBs facilitated osteoblastic differentiation and repressed tumorigenic potential. By integrating human imprinted gene network (IGN) into functional genomic analyses, we found that H19 mediates suppression of LFS-associated OS through the IGN component DECORIN (DCN). In summary, these findings demonstrate the feasibility of studying inherited human cancer syndromes with iPSCs. PMID:25860607

  13. A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li–Fraumeni-like families

    PubMed Central

    Calvete, Oriol; Martinez, Paula; Garcia-Pavia, Pablo; Benitez-Buelga, Carlos; Paumard-Hernández, Beatriz; Fernandez, Victoria; Dominguez, Fernando; Salas, Clara; Romero-Laorden, Nuria; Garcia-Donas, Jesus; Carrillo, Jaime; Perona, Rosario; Triviño, Juan Carlos; Andrés, Raquel; Cano, Juana María; Rivera, Bárbara; Alonso-Pulpon, Luis; Setien, Fernando; Esteller, Manel; Rodriguez-Perales, Sandra; Bougeard, Gaelle; Frebourg, Tierry; Urioste, Miguel; Blasco, Maria A.; Benítez, Javier

    2015-01-01

    Cardiac angiosarcoma (CAS) is a rare malignant tumour whose genetic basis is unknown. Here we show, by whole-exome sequencing of a TP53-negative Li–Fraumeni-like (LFL) family including CAS cases, that a missense variant (p.R117C) in POT1 (protection of telomeres 1) gene is responsible for CAS. The same gene alteration is found in two other LFL families with CAS, supporting the causal effect of the identified mutation. We extend the analysis to TP53-negative LFL families with no CAS and find the same mutation in a breast AS family. The mutation is recently found once in 121,324 studied alleles in ExAC server but it is not described in any other database or found in 1,520 Spanish controls. In silico structural analysis suggests how the mutation disrupts POT1 structure. Functional and in vitro studies demonstrate that carriers of the mutation show reduced telomere-bound POT1 levels, abnormally long telomeres and increased telomere fragility. PMID:26403419

  14. Case reports of oculofaciocardiodental syndrome with unusual dental findings.

    PubMed

    Oberoi, Snehlata; Winder, Alison E; Johnston, Jennifer; Vargervik, Karin; Slavotinek, Anne M

    2005-07-30

    We report on two new cases of oculofaciocardiodental (OFCD) syndrome characterized by cataracts, microphthalmia, facial anomalies, cleft palate, cardiac septal defects, and canine radiculomegaly. We also review previous patients. The syndrome is caused by mutations in the BCOR gene, which maps to Xp11.4. Mutational analysis in one of our patients showed a deletion of a single nucleotide, c.2613delC, predicting a novel frameshift mutation with a premature stop codon, p.F871Lfs8X. PMID:15957158

  15. Simultaneous adrenocortical carcinoma and ganglioneuroblastoma in a child with Turner syndrome and germline p53 mutation.

    PubMed Central

    Pivnick, E K; Furman, W L; Velagaleti, G V; Jenkins, J J; Chase, N A; Ribeiro, R C

    1998-01-01

    The predisposition to malignancy that is dominantly inherited in Li-Fraumeni syndrome is associated with germline mutations of the tumour suppressor gene p53. Although second malignant neoplasms have been described in children with p53 mutations, the synchronous occurrence of two embryologically different tumours in these children has not been reported. A 20 month old girl with failure to thrive and congenital heart defects was found to have unilateral adrenal masses which, at surgical removal, proved to be an adrenocortical carcinoma and a ganglioneuroblastoma. Further investigation showed a germline p53 mutation and Turner syndrome. It remains to be determined what effect the 45,X chromosomal complement may have on the expression of neoplasms seen in patients with p53 germline mutations. Images PMID:9598730

  16. Whole-Genome SNP Association in the Horse: Identification of a Deletion in Myosin Va Responsible for Lavender Foal Syndrome

    PubMed Central

    Brooks, Samantha A.; Gabreski, Nicole; Miller, Donald; Brisbin, Abra; Brown, Helen E.; Streeter, Cassandra; Mezey, Jason; Cook, Deborah; Antczak, Douglas F.

    2010-01-01

    Lavender Foal Syndrome (LFS) is a lethal inherited disease of horses with a suspected autosomal recessive mode of inheritance. LFS has been primarily diagnosed in a subgroup of the Arabian breed, the Egyptian Arabian horse. The condition is characterized by multiple neurological abnormalities and a dilute coat color. Candidate genes based on comparative phenotypes in mice and humans include the ras-associated protein RAB27a (RAB27A) and myosin Va (MYO5A). Here we report mapping of the locus responsible for LFS using a small set of 36 horses segregating for LFS. These horses were genotyped using a newly available single nucleotide polymorphism (SNP) chip containing 56,402 discriminatory elements. The whole genome scan identified an associated region containing these two functional candidate genes. Exon sequencing of the MYO5A gene from an affected foal revealed a single base deletion in exon 30 that changes the reading frame and introduces a premature stop codon. A PCR–based Restriction Fragment Length Polymorphism (PCR–RFLP) assay was designed and used to investigate the frequency of the mutant gene. All affected horses tested were homozygous for this mutation. Heterozygous carriers were detected in high frequency in families segregating for this trait, and the frequency of carriers in unrelated Egyptian Arabians was 10.3%. The mapping and discovery of the LFS mutation represents the first successful use of whole-genome SNP scanning in the horse for any trait. The RFLP assay can be used to assist breeders in avoiding carrier-to-carrier matings and thus in preventing the birth of affected foals. PMID:20419149

  17. Germline TP53 Variants and Susceptibility to Osteosarcoma

    PubMed Central

    Yeager, Meredith; Mai, Phuong L.; Gastier-Foster, Julie M.; Gorlick, Richard; Khanna, Chand; Patiño-Garcia, Ana; Sierrasesúmaga, Luis; Lecanda, Fernando; Andrulis, Irene L.; Wunder, Jay S.; Gokgoz, Nalan; Barkauskas, Donald A.; Zhang, Xijun; Vogt, Aurelie; Jones, Kristine; Boland, Joseph F.; Chanock, Stephen J.; Savage, Sharon A.

    2015-01-01

    The etiologic contribution of germline genetic variation to sporadic osteosarcoma is not well understood. Osteosarcoma is a sentinel cancer of Li-Fraumeni syndrome (LFS), in which approximately 70% of families meeting the classic criteria have germline TP53 mutations. We sequenced TP53 exons in 765 osteosarcoma cases. Data were analyzed with χ2 tests, logistic regression, and Cox proportional hazards regression models. We observed a high frequency of young osteosarcoma cases (age <30 years) carrying a known LFS- or likely LFS-associated mutation (3.8%) or rare exonic variant (5.7%) with an overall frequency of 9.5%, compared with none in case patients age 30 years and older (P < .001). This high TP53 mutation prevalence in young osteosarcoma cases is statistically significantly greater than the previously reported prevalence of 3% (P = .0024). We identified a novel association between a TP53 rare variant and metastasis at diagnosis of osteosarcoma (rs1800372, odds ratio = 4.27, 95% confidence interval = 1.2 to 15.5, P = .026). Genetic susceptibility to young onset osteosarcoma is distinct from older adult onset osteosarcoma, with a high frequency of LFS-associated and rare exonic TP53 variants. PMID:25896519

  18. Thyroid, Renal, and Breast Carcinomas, Chondrosarcoma, Colon Adenomas, and Ganglioneuroma: A New Cancer Syndrome, FAP, or Just Coincidence.

    PubMed

    Atta, Ihab Shafek; AlQahtani, Fahd Nasser

    2016-01-01

    We are presenting a case associated with papillary thyroid carcinoma, renal cell carcinoma, invasive mammary carcinoma, chondrosarcoma, benign ganglioneuroma, and numerous colon adenomas. The patient had a family history of colon cancer, kidney and bladder cancers, lung cancer, thyroid cancer, leukemia, and throat and mouth cancers. She was diagnosed with colonic villous adenoma at the age of 41 followed by thyroid, renal, and breast cancers and chondrosarcoma at the ages of 48, 64, 71, and 74, respectively. Additionally, we included a table with the most common familial cancer syndromes with one or more benign or malignant tumors diagnosed in our case, namely, FAP, HNPCC, Cowden, Peutz-Jeghers, renal cancer, tuberous sclerosis, VHL, breast/other, breast/ovarian, Carney, Werner's, Bloom, Li-Fraumeni, xeroderma pigmentosum, ataxia-telangiectasia, osteochondromatosis, retinoblastoma, and MEN2A. PMID:27087812

  19. Thyroid, Renal, and Breast Carcinomas, Chondrosarcoma, Colon Adenomas, and Ganglioneuroma: A New Cancer Syndrome, FAP, or Just Coincidence

    PubMed Central

    Atta, Ihab Shafek; AlQahtani, Fahd Nasser

    2016-01-01

    We are presenting a case associated with papillary thyroid carcinoma, renal cell carcinoma, invasive mammary carcinoma, chondrosarcoma, benign ganglioneuroma, and numerous colon adenomas. The patient had a family history of colon cancer, kidney and bladder cancers, lung cancer, thyroid cancer, leukemia, and throat and mouth cancers. She was diagnosed with colonic villous adenoma at the age of 41 followed by thyroid, renal, and breast cancers and chondrosarcoma at the ages of 48, 64, 71, and 74, respectively. Additionally, we included a table with the most common familial cancer syndromes with one or more benign or malignant tumors diagnosed in our case, namely, FAP, HNPCC, Cowden, Peutz-Jeghers, renal cancer, tuberous sclerosis, VHL, breast/other, breast/ovarian, Carney, Werner's, Bloom, Li-Fraumeni, xeroderma pigmentosum, ataxia-telangiectasia, osteochondromatosis, retinoblastoma, and MEN2A. PMID:27087812

  20. Ancestry of the Brazilian TP53 c.1010G>A (p.Arg337His, R337H) Founder Mutation: Clues from Haplotyping of Short Tandem Repeats on Chromosome 17p

    PubMed Central

    Paskulin, Diego Davila; Giacomazzi, Juliana; Achatz, Maria Isabel; Costa, Sandra; Reis, Rui Manoel; Hainaut, Pierre; dos Santos, Sidney Emanuel Batista; Ashton-Prolla, Patricia

    2015-01-01

    Rare germline mutations in TP53 (17p13.1) cause a highly penetrant predisposition to a specific spectrum of early cancers, defining the Li-Fraumeni Syndrome (LFS). A germline mutation at codon 337 (p.Arg337His, c1010G>A) is found in about 0.3% of the population of Southern Brazil. This mutation is associated with partially penetrant LFS traits and is found in the germline of patients with early cancers of the LFS spectrum unselected for familial history. To characterize the extended haplotypes carrying the mutation, we have genotyped 9 short tandem repeats on chromosome 17p in 12 trios of Brazilian p.Arg337His carriers. Results confirm that all share a common ancestor haplotype of Caucasian/Portuguese-Iberic origin, distant in about 72–84 generations (2000 years assuming a 25 years intergenerational distance) and thus pre-dating European migration to Brazil. So far, the founder p.Arg337His haplotype has not been detected outside Brazil, with the exception of two residents of Portugal, one of them of Brazilian origin. On the other hand, increased meiotic recombination in p.Arg337His carriers may account for higher than expected haplotype diversity. Further studies comparing haplotypes in populations of Brazil and of other areas of Portuguese migration are needed to understand the historical context of this mutation in Brazil. PMID:26618902

  1. Educational paper: screening in cancer predisposition syndromes: guidelines for the general pediatrician.

    PubMed

    Teplick, Alexis; Kowalski, Megan; Biegel, Jaclyn A; Nichols, Kim E

    2011-03-01

    Improvements in our understanding of the genetic basis of human disease and increased utilization of genetic testing have identified a variety of heritable disorders associated with the onset of benign or malignant neoplasms during childhood. In many cases, the optimal management of affected children is dependent upon the early detection and treatment of tumors. Surveillance strategies based on the natural history of these lesions are often complex, requiring clinical examinations and radiologic and laboratory studies that evolve over a patient's lifetime. A general pediatrician may be the first to suspect one of these disorders in a patient, or may be faced with questions regarding genetic testing, cancer risk, and cancer screening. The pediatrician may also coordinate and interpret the results of specific surveillance studies. In this review, we present the genetic etiology, presentation, natural history, and surveillance recommendations for four disparate hereditary tumor predisposing syndromes, including Beckwith-Wiedemann syndrome/idiopathic hemihyperplasia, von Hippel-Lindau disease, Li-Fraumeni syndrome, and rhabdoid tumor/schwannomatosis. These examples are meant to offer the clinician practical recommendations as well as a framework upon which to base the understanding and management of other conditions associated with an increased risk to develop tumors in childhood. PMID:21210147

  2. Comparable frequency of BRCA1, BRCA2 and TP53 germline mutations in a multi-ethnic Asian cohort suggests TP53 screening should be offered together with BRCA1/2 screening to early-onset breast cancer patients

    PubMed Central

    2012-01-01

    Introduction Germline TP53 mutations cause an increased risk to early-onset breast cancer in Li-Fraumeni syndrome (LFS) families and the majority of carriers identified through breast cancer cohorts have LFS or Li-Fraumeni-like (LFL) features. However, in Asia and in many low resource settings, it is challenging to obtain accurate family history and we, therefore, sought to determine whether the presence of early-onset breast cancer is an appropriate selection criteria for germline TP53 testing. Methods A total of 100 patients with early-onset breast cancer (≤ 35 years) treated at University Malaya Medical Centre between 2003 and 2009, were analyzed for germline mutations in BRCA1, BRCA2 and TP53 by full DNA sequencing. Of the mutations identified, we examined their likely pathogenicity on the basis of prevalence in a case-control cohort, co-segregation analyses and loss of heterozygosity (LOH) in tumor tissues. Results We identified 11 BRCA1 (11%) and 6 BRCA2 (6%) germline carriers among early-onset breast cancer patients. Of the 83 BRCA-negative patients, we identified four exonic variants and three intronic variants in TP53. Of these, two exonic variants are clinically relevant (E346X and p. G334_R335dup6) and two novel missense mutations (A138V and E285K) are likely to be clinically relevant, on the basis of co-segregation and loss of heterozygosity (LOH). Notably, E285K was found in two unrelated individuals and haplotype analyses suggest a founder effect. Two of the three intronic variants are likely benign based on their prevalence in a control population. Clinically relevant TP53 germline mutations were identified in three of the four patients (75%) with a family history of at least two LFS-linked cancers (breast, bone or soft tissue sarcoma, brain tumors or adrenocortical cancer); 1 of the 17 patients (6%) with a family history of breast cancer only, and 1 of the 62 patients (< 2%) with no family history of breast or LFS-linked cancers. Conclusions Our

  3. Auriculotemporal Syndrome (Frey Syndrome).

    PubMed

    Motz, Kevin M; Kim, Young J

    2016-04-01

    Frey syndrome is a common sequela of parotidectomy, and although it is not frequently manifested clinically, it can cause significant morbidity for those affected. Frey syndrome results from synkinetic autonomic reinnervation by transected postganglionic parasympathetic nerve fiber within the parotid gland to the overlying sweat glands of the skin. Many surgical techniques have been proposed to prevent the development of Frey syndrome. For those who develop clinical symptoms of Frey syndrome, objective testing can be performed with a Minor starch-iodine test. Some of the current methods to prevent and treat symptomatic Frey syndrome are reviewed. PMID:26902982

  4. Comparison of multiple genotyping methods for the identification of the cancer predisposing founder mutation p.R337H in TP53.

    PubMed

    Fitarelli-Kiehl, Mariana; Macedo, Gabriel S; Schlatter, Rosane Paixão; Koehler-Santos, Patricia; Matte, Ursula da Silveira; Ashton-Prolla, Patricia; Giacomazzi, Juliana

    2016-06-01

    Germline mutations in the TP53 gene are associated with Li-Fraumeni and Li-Fraumeni-Like Syndromes, characterized by increased predisposition to early-onset cancers. In Brazil, the prevalence of the TP53-p.R337H germline mutation is exceedingly high in the general population and in cancer-affected patients, probably as result of a founder effect. Several genotyping methods are used for the molecular diagnosis of LFS/LFL, however Sanger sequencing is still considered the gold standard. We compared performance, cost and turnaround time of Sanger sequencing, PCR-RFLP, TaqMan-PCR and HRM in the p.R337H genotyping. The performance was determined by analysis of 95 genomic DNA samples and results were 100% concordant for all methods. Sequencing was the most expensive method followed by TaqMan-PCR, PCR-RFLP and HRM. The overall cost of HRM increased with the prevalence of positive samples, since confirmatory sequencing must be performed when a sample shows an abnormal melting profile, but remained lower than all other methods when the mutation prevalence was less than 2.5%. Sequencing had the highest throughput and the longest turnaround time, while TaqMan-PCR showed the lowest turnaround and hands-on times. All methodologies studied are suitable for the detection of p.R337H and the choice will depend on the application and clinical scenario. PMID:27275664

  5. Comparison of multiple genotyping methods for the identification of the cancer predisposing founder mutation p.R337H inTP53

    PubMed Central

    Fitarelli-Kiehl, Mariana; Macedo, Gabriel S.; Schlatter, Rosane Paixão; Koehler-Santos, Patricia; Matte, Ursula da Silveira; Ashton-Prolla, Patricia; Giacomazzi, Juliana

    2016-01-01

    Abstract Germline mutations in the TP53 gene are associated with Li-Fraumeni and Li-Fraumeni-Like Syndromes, characterized by increased predisposition to early-onset cancers. In Brazil, the prevalence of the TP53-p.R337H germline mutation is exceedingly high in the general population and in cancer-affected patients, probably as result of a founder effect. Several genotyping methods are used for the molecular diagnosis of LFS/LFL, however Sanger sequencing is still considered the gold standard. We compared performance, cost and turnaround time of Sanger sequencing, PCR-RFLP, TaqMan-PCR and HRM in the p.R337H genotyping. The performance was determined by analysis of 95 genomic DNA samples and results were 100% concordant for all methods. Sequencing was the most expensive method followed by TaqMan-PCR, PCR-RFLP and HRM. The overall cost of HRM increased with the prevalence of positive samples, since confirmatory sequencing must be performed when a sample shows an abnormal melting profile, but remained lower than all other methods when the mutation prevalence was less than 2.5%. Sequencing had the highest throughput and the longest turnaround time, while TaqMan-PCR showed the lowest turnaround and hands-on times. All methodologies studied are suitable for the detection of p.R337H and the choice will depend on the application and clinical scenario. PMID:27275664

  6. Tourette syndrome

    MedlinePlus

    Gilles de la Tourette syndrome; Tic disorders - Tourette syndrome ... Tourette syndrome is named for Georges Gilles de la Tourette, who first described this disorder in 1885. The disorder is likely passed down through families. The syndrome may be linked to ...

  7. Brown Syndrome

    MedlinePlus

    ... Does Brown syndrome cause eye problems besides abnormal eye movements? Some children with Brown syndrome have poor binocular ... In the congenital form of Brown syndrome, the eye movement problem is usually constant and unlikely to resolve ...

  8. Dravet Syndrome

    MedlinePlus

    ... NINDS Dravet Syndrome Information Page Synonym(s): Severe Myoclonic Epilepsy of Infancy (SMEI) Table of Contents (click to ... Dravet Syndrome? Dravet syndrome, also called severe myoclonic epilepsy of infancy (SMEI), is a severe form of ...

  9. Fahr's Syndrome

    MedlinePlus

    ... Awards Enhancing Diversity Find People About NINDS NINDS Fahr's Syndrome Information Page Synonym(s): Familial Idiopathic Basal Ganglia ... is being done? Clinical Trials Organizations What is Fahr's Syndrome? Fahr's Syndrome is a rare, genetically dominant, ...

  10. Cushing syndrome

    MedlinePlus

    Hypercortisolism; Cortisol excess ... The most common cause of Cushing syndrome is taking too much glucocorticosteroid medicine. This form of Cushing syndrome is called exogenous Cushing syndrome . Prednisone, dexamethasone, and prednisolone are ...

  11. Williams syndrome

    MedlinePlus

    Williams-Beuren syndrome ... Williams syndrome is caused by not having a copy of several genes. Parents may not have any family history of the condition. However, people with Williams syndrome have a 50% chance of passing the ...

  12. Turner Syndrome

    MedlinePlus

    Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or ... t work properly. Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of ...

  13. LEOPARD syndrome

    MedlinePlus

    LEOPARD syndrome is a very rare inherited disorder in which there are problems with the skin, face, ... LEOPARD syndrome is inherited as an autosomal dominant trait. This means the person only needs the abnormal ...

  14. Pendred Syndrome

    MedlinePlus

    ... thyroid gland. Pendred syndrome also can affect the vestibular system, which controls balance. Some people with Pendred syndrome will show vestibular weakness when their balance is tested. However, the ...

  15. Bloom's Syndrome

    MedlinePlus

    ... Glycogen Storage Disease, Type 1A Joubert Syndrome Maple Syrup Urine Disease and DLD Mucolipidosis IV (MLIV) Nemaline ... Glycogen Storage Disease, Type 1A Joubert Syndrome Maple Syrup Urine Disease and DLD Mucolipidosis IV (MLIV) Nemaline ...

  16. Metabolic Syndrome

    MedlinePlus

    Metabolic syndrome is a group of conditions that put you at risk for heart disease and diabetes. These ... doctors agree on the definition or cause of metabolic syndrome. The cause might be insulin resistance. Insulin is ...

  17. Cushing's Syndrome

    MedlinePlus

    ... Cushing's syndrome, also called hypercortisolism , is a rare endocrine disorder caused by chronic exposure of the body's tissues ... removing the tumor while minimizing the chance of endocrine deficiency or long-term ... for Cushing's Syndrome Clinical Trials ...

  18. Rett Syndrome

    MedlinePlus

    Rett syndrome is a rare genetic disease that causes developmental and nervous system problems, mostly in girls. It's related to autism spectrum disorder. Babies with Rett syndrome seem to grow and develop normally at first. ...

  19. Piriformis syndrome

    MedlinePlus

    Pseudosciatica; Wallet sciatica; Hip socket neuropathy; Pelvic outlet syndrome; Low back pain - piriformis ... Sciatica is the main symptom of piriformis syndrome. Other symptoms include: Tenderness or a dull ache in ...

  20. Angelman Syndrome

    MedlinePlus

    ... causes developmental delay and neurological problems. The physician Harry Angelman first delineated the syndrome in 1965, when ... 202-534-3731 Prader-Willi Syndrome Association 8588 Potter Park Drive Suite 500 Sarasota, FL 34238 national@ ...

  1. Sotos syndrome.

    PubMed

    Juneja, A; Sultan, A

    2011-12-01

    Sotos syndrome is a well-defined childhood overgrowth syndrome characterized by pre- and postnatal overgrowth, developmental delay, advanced bone age, and a typical facial gestalt including macrodolichocephaly with frontal bossing, frontoparietal sparseness of hair, apparent hypertelorism, downslanting palpebral fissures, and facial flushing. This report presents a case of Sotos syndrome in a 5½-year-old child. PMID:22169837

  2. Velocardiofacial Syndrome

    ERIC Educational Resources Information Center

    Gothelf, Doron; Frisch, Amos; Michaelovsky, Elena; Weizman, Abraham; Shprintzen, Robert J.

    2009-01-01

    Velocardiofacial syndrome (VCFS), also known as DiGeorge, conotruncal anomaly face, and Cayler syndromes, is caused by a microdeletion in the long arm of Chromosome 22. We review the history of the syndrome from the first clinical reports almost half a century ago to the current intriguing molecular findings associating genes from the…

  3. Dumping Syndrome

    MedlinePlus

    ... Disease Organizations​​ (PDF, 341 KB)​​​​​ Alternate Language URL Dumping Syndrome Page Content On this page: What is ... Nutrition Points to Remember Clinical Trials What is dumping syndrome? Dumping syndrome occurs when food, especially sugar, ...

  4. Down syndrome

    MedlinePlus

    Down syndrome is a genetic condition in which a person has 47 chromosomes instead of the usual 46. ... In most cases, Down syndrome occurs when there is an extra copy of chromosome 21. This form of Down syndrome is called trisomy 21. ...

  5. Lateral facet syndrome of the patella. Lateral restraint analysis and use of lateral resection.

    PubMed

    Johnson, R P

    1989-01-01

    Thirty-eight knees in 34 patients with an average age of 22 years were diagnosed as having lateral facet syndrome (LFS), a painful compressive arthropathy of the lateral facet of the patella. This diagnosis was based on the physical findings of tenderness at the lateral patellofemoral joint line, tenderness over the vastus lateralis obliquus (VLO) tendon just above the patella, a positive medial apprehension test, and marked resistance to medial patellar displacement with the knee flexed 30 degrees. The most common complaints were patellar pain with activity, pain with prolonged knee flexion, intermittent knee swelling, and giving way. At surgery, the VLO, the lateral retinaculum (LR), and the anterior fibers of the iliotibial tract (ITT) were sequentially divided from the lateral border of the patella. Each was temporarily reattached to a cuff of soft tissue left on the patella using surgical clamps to determine its contribution to lateral restraint. The VLO was found to be the primary restraint in one-half of the knees. In one-third of the knees, all three of the structures contributed equally. In six knees, the primary restraint was the anterior fibers of the ITT, whereas the LR was the primary restraint in only two. The distal ends of these three structures were then resected to prevent rescarring and retethering. At a minimum follow-up period of two years, 87% had satisfactory relief of their patellar pain, had returned to normal activities, and had no or minimal physical findings of LFS. The procedure is recommended for patients who have failed other procedures and in those whose symptoms cannot be controlled by activity modification, exercises, bracing, or medication. PMID:2910595

  6. Refeeding syndrome.

    PubMed

    Fernández López, M T; López Otero, M J; Alvarez Vázquez, P; Arias Delgado, J; Varela Correa, J J

    2009-01-01

    Refeeding syndrome is a complex syndrome that occurs as a result of reintroducing nutrition (oral, enteral or parenteral) to patients who are starved or malnourished. Patients can develop fluid-balance abnormalities, electrolyte disorders (hypophosphataemia, hypokalaemia and hypomagnesaemia), abnormal glucose metabolism and certain vitamin deficiencies. Refeeding syndrome encompasses abnormalities affecting multiple organ systems, including neurological, pulmonary, cardiac, neuromuscular and haematological functions. Pathogenic mechanisms involved in the refeeding syndrome and clinical manifestations have been reviewed. We provide suggestions for the prevention and treatment of refeeding syndrome. The most important steps are to identify patients at risk, reintroduce nutrition cautiously and correct electrolyte and vitamin deficiencies properly.

  7. Serotonin Syndrome

    PubMed Central

    Volpi-Abadie, Jacqueline; Kaye, Adam M.; Kaye, Alan David

    2013-01-01

    Background Serotonin syndrome is a potentially life-threatening syndrome that is precipitated by the use of serotonergic drugs and overactivation of both the peripheral and central postsynaptic 5HT-1A and, most notably, 5HT-2A receptors. This syndrome consists of a combination of mental status changes, neuromuscular hyperactivity, and autonomic hyperactivity. Serotonin syndrome can occur via the therapeutic use of serotonergic drugs alone, an intentional overdose of serotonergic drugs, or classically, as a result of a complex drug interaction between two serotonergic drugs that work by different mechanisms. A multitude of drug combinations can result in serotonin syndrome. Methods This review describes the presentation and management of serotonin syndrome and discusses the drugs and interactions that can precipitate this syndrome with the goal of making physicians more alert and aware of this potentially fatal yet preventable syndrome. Conclusion Many commonly used medications have proven to be the culprits of serotonin syndrome. Proper education and awareness about serotonin syndrome will improve the accuracy of diagnosis and promote the institution of the appropriate treatment that may prevent significant morbidity and mortality. PMID:24358002

  8. Overgrowth Syndromes.

    PubMed

    Edmondson, Andrew C; Kalish, Jennifer M

    2015-09-01

    Numerous multiple malformation syndromes associated with pathologic overgrowth have been described and, for many, their molecular bases elucidated. This review describes the characteristic features of these overgrowth syndromes, as well as the current understanding of their molecular bases, intellectual outcomes, and cancer predispositions. We review syndromes such as Sotos, Malan, Marshall-Smith, Weaver, Simpson-Golabi-Behmel, Perlman, Bannayan-Riley-Ruvalcaba, PI3K-related, Proteus, Beckwith-Wiedemann, fibrous dysplasia, Klippel-Trenaunay-Weber, and Maffucci. PMID:27617124

  9. Overgrowth Syndromes

    PubMed Central

    Edmondson, Andrew C.; Kalish, Jennifer M.

    2015-01-01

    Numerous multiple malformation syndromes associated with pathologic overgrowth have been described and, for many, their molecular bases elucidated. This review describes the characteristic features of these overgrowth syndromes, as well as the current understanding of their molecular bases, intellectual outcomes, and cancer predispositions. We review syndromes such as Sotos, Malan, Marshall–Smith, Weaver, Simpson–Golabi–Behmel, Perlman, Bannayan–Riley–Ruvalcaba, PI3K-related, Proteus, Beckwith–Wiedemann, fibrous dysplasia, Klippel–Trenaunay–Weber, and Maffucci. PMID:27617124

  10. Seckel syndrome: an overdiagnosed syndrome.

    PubMed Central

    Thompson, E; Pembrey, M

    1985-01-01

    Five children in whom a diagnosis of Seckel syndrome had previously been made were re-examined in the genetic unit. One child had classical Seckel syndrome, a sib pair had the features of the syndrome with less severe short stature, and in two children the diagnosis was not confirmed. Seckel syndrome is only one of a group of low birth weight microcephalic dwarfism and careful attention should be paid to fulfillment of the major criteria defined by Seckel before the diagnosis is made. There remains a heterogeneous group of low birth weight microcephalic dwarfism yet to be defined. Images PMID:4040172

  11. Marfan Syndrome

    MedlinePlus

    ... Connective tissue helps support all parts of your body. It also helps control how your body grows and develops. Marfan syndrome most often affects ... A mutation, or change, in the gene that controls how the body makes fibrillin causes Marfan syndrome. Fibrillin is a ...

  12. Myelodysplastic Syndromes

    MedlinePlus

    ... your body, the white blood cells that fight infections, and the platelets that help with blood clotting. If you have a myelodysplastic syndrome, the stem cells do not mature into healthy blood cells. ... anemia, or easy bleeding. Myelodysplastic syndromes often do ...

  13. Brown's syndrome.

    PubMed

    Wilson, M E; Eustis, H S; Parks, M M

    1989-01-01

    Brown's syndrome is a well-recognized clinical disorder of ocular motility manifesting most notably a restriction of active and passive elevation in adduction. The original name, "superior oblique tendon sheath syndrome," is no longer appropriate, since it has been shown that the tissue surrounding the anterior superior oblique tendon is blameless as a restrictive force. "True" and "simulated" as descriptive modifiers should also be discarded, as they relate to the disproven sheath concept. Brown's syndrome occurs as a congenital or acquired, constant or intermittent condition; the common link is restriction of free movement through the trochlea pulley mechanism. The various etiologic theories are reviewed and the spectrum of medical and surgical treatments are described and evaluated. Evidence suggests that subtypes of Brown's syndrome lie on a single continuum and that spontaneous resolution occurs in each group, probably more often than previously recognized. A simplified classification scheme is encouraged and possible future directions in Brown's syndrome research are introduced.

  14. Turner's syndrome.

    PubMed

    Ranke, M B; Saenger, P

    2001-07-28

    Before chromosomal analysis became available, the diagnosis of Turner's syndrome was based on the characteristics independently described by Otto Ullrich and Henry Turner, such as short stature, gonadal dysgenesis, typical, visible dysmorphic stigmata, and abnormalities in organs, which present in individuals with a female phenotype. Today, Turner's syndrome or Ullrich-Turner's syndrome may be defined as the combination of characteristic physical features and complete or part absence of one of the X chromosomes, frequently accompanied by cell-line mosaicism. The increasing interest in Turner's syndrome over the past two decades has been motivated both by the quest for a model by which the multi-faceted features of this disorder can be understood, and the endeavour to provide life-long support to the patient. New developments in research allow patients with Turner's syndrome to have multidisciplinary care.

  15. Neurocutaneous syndromes.

    PubMed

    Klar, Nitasha; Cohen, Bernard; Lin, Doris D M

    2016-01-01

    Neurocutaneous syndromes (or phakomatoses) are a diverse group of congenital disorders that encompass abnormalities of neuroectodermal and, sometimes, mesodermal development, hence commonly involving the skin, eye, and central nervous system. These are often inherited conditions and typically present in early childhood or adolescence. Some of the abnormalities and clinical symptoms may, however, be progressive, and there is an increased risk of neoplastic formation in many of the syndromes. As a group, neurocutaneous syndromes are characterized by distinctive cutaneous stigmata and neurologic symptomology, the latter often representing the most devastating and debilitating features of these diseases. Many of these syndromes are markedly heterogeneous in nature as they affect many organ systems. Given the incurable nature of these conditions and the broad spectrum of pathologies they comprise, treatments vary on a case-by-case basis and tend to be palliative rather than curative. With the advances in molecular genetics, however, greater understanding of biologic functions of the gene products and the correlative phenotypic expression is being attained, and this knowledge may guide future therapeutic developments. This chapter focuses on the cutaneous and neurologic pathology with emphasis on neuroimaging of selective neurocutaneous syndromes, including tuberous sclerosis, Sturge-Weber syndrome, Klippel-Trenaunay syndrome, ataxia-telangiectasia, and incontinentia pigmenti. PMID:27432683

  16. Kounis syndrome.

    PubMed

    Ntuli, P M; Makambwa, E

    2015-10-01

    Kounis syndrome is characterised by a group of symptoms that manifest as unstable vasospastic or non-vasospastic angina secondary to a hypersensitivity reaction. It was first described by Kounis and Zavras in 1991 as the concurrence of an allergic response with an anaphylactoid or anaphylactic reaction and coronary artery spasm or even myocardial infarction. Since then, this condition has evolved to include a number of mast cell activation disorders associated with acute coronary syndrome. There are many triggering factors, including reactions to multiple medications, exposure to radiological contrast media, poison ivy, bee stings, shellfish and coronary stents. In addition to coronary arterial involvement, Kounis syndrome comprises other arterial systems with similar physiologies, such as mesenteric and cerebral circulation resulting in ischaemia/infarction of the vital organs. The incidence of this condition is difficult to establish owing to the number of potential instigating factors and its relatively infrequent documentation in the literature.We report the case of an HIV-negative 39-year-old man with no coronary risk factors or family history of premature coronary artery disease, who developed Kounis syndrome after the administration of fluoroquinolone for dysuria. However, to the best of our knowledge,no data on the incidence and prevalence of Kounis syndrome in South Africa have ever been reported in the literature. The recent understanding of Kounis syndrome has led to the condition being classified into three syndrome variants.

  17. Hubris syndrome.

    PubMed

    Owen, David

    2008-08-01

    Hubris syndrome is associated with power, more likely to manifest itself the longer the person exercises power and the greater the power they exercise. A syndrome not to be applied to anyone with existing mental illness or brain damage. Usually symptoms abate when the person no longer exercises power. It is less likely to develop in people who retain a personal modesty, remain open to criticism, have a degree of cynicism or well developed sense of humour. Four heads of government in the last 100 years are singled out as having developed hubris syndrome: David Lloyd George, Margaret Thatcher, George W Bush and Tony Blair.

  18. [William's syndrome].

    PubMed

    Rubia Vila, Francisco José

    2007-01-01

    William's syndrome is of great interest to neurosclence as it is expected to help understand the genetic and neural mechanisms that underlie our cognitive systems. Although patients with this syndrome have moderate levels of learning disability, some of them, however, have superior skills in language, auditory memory, face recognition, empathy with others and a passion for music. The theory that best explains this syndrome is that the degeneration of the functions of the left hemisphere generates a compensation via an increase in the functions of the right hemisphere. PMID:18069600

  19. [DRESS syndrome].

    PubMed

    Adamcová, Monika; Šturdík, Igor; Koller, Tomáš; Payer, Juraj

    2016-04-01

    DRESS syndrome (Drug Rash with Eosinophilia and Systemic Symptoms) is severe drug-induced allergic-type reaction which occurs few days to weeks after taking a drug in a predisposed patient. Organ damage, eosinophilia and skin rash are typical at presentation. Corticotherapy is often necessary in severe cases. In this report we describe a case of 56-year old female with fever, elevated liver tests and skin rash. DRESS syndrome was diagnosed and allopurinol was indentified as a causative drug. Due to possible fatal outcome, DRESS syndrome should be considered in a differential diagnosis of all patients presenting with similar signs and symptoms. PMID:27250614

  20. Velocardiofacial syndrome.

    PubMed Central

    Pike, A. C.; Super, M.

    1997-01-01

    Velocardiofacial syndrome is a syndrome of multiple anomalies that include cleft palate, cardiac defects, learning difficulties, speech disorder and characteristic facial features. It has an estimated incidence of 1 in 5000. The majority of cases have a microdeletion of chromosome 22q11.2. The phenotype of this condition shows considerable variation, not all the principal features are present in each case. Identification of the syndrome can be difficult as many of the anomalies are minor and present in the general population. Images Figure 1 Figure 2 Figure 3 Figure 4 Figure 5 Figure 6 PMID:9497944

  1. LEOPARD Syndrome.

    PubMed

    Ghosh, Sudip Kumar; Majumdar, Biswajit; Rudra, Olympia; Chakraborty, Sougat

    2015-10-01

    LEOPARD syndrome (LS) is an autosomal dominantly inherited or sporadic disorder of variable penetrance and expressivity. The acronym LEOPARD stands for its cardinal clinical features including Lentigines, Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormalities of genitalia, Retardation of growth, and Deafness. We present herein a patient with LEOPARD syndrome and distinctive features. It was noteworthy that our patient presented with the concern of generalized lentiginosis and subsequent evaluation revealed that the patient had LEOPARD syndrome. In this report we would like to highlight the importance of detailed clinical examination and appropriate imaging in patients with multiple lentigines.

  2. Marfan Syndrome

    MedlinePlus

    Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, blood vessels, and other organs. One of these proteins is fibrillin. A problem with the ...

  3. Reifenstein syndrome

    MedlinePlus

    ... with the gene will be affected. Every female child has a 50% chance of carrying the gene. Family history is important in determining risk factors. The syndrome is estimated to affect 1 in 99,000 people.

  4. Paraneoplastic Syndromes

    PubMed Central

    Stolinsky, David C.

    1980-01-01

    Neoplasms can produce a variety of remote effects on the host; these are referred to as paraneoplastic syndromes. The syndromes may affect any of the systems of the body, may precede or follow the diagnosis of the underlying neoplasm, and may or may not parallel the course of the neoplasm in severity. The diagnosis of and therapy for these syndromes can be challenging to a physician, but successful therapy may bring about worthwhile relief for the patient. In addition, the syndromes and the substances that cause them are sometimes useful in diagnosing and in following the course of certain neoplasms. Perhaps of greater importance, study of these remote effects of neoplasia may shed light on the nature of the neoplastic process itself. PMID:6990627

  5. Beals Syndrome

    MedlinePlus

    ... have many of the skeletal (bone) and aortic enlargement problems as people with Marfan syndrome, and treatments ... appearance to the top of the ear Aortic enlargement and/or mitral valve regurgitation (occasionally) People with ...

  6. Aase syndrome

    MedlinePlus

    Aase-Smith syndrome; Hypoplastic anemia - triphalangeal thumbs, Aase-Smith type ... Jones KL, Jones MC, Del Campo M, eds. Smith's Recognizable Patterns of Human Malformation . 7th ed. Philadelphia, ...

  7. Turner Syndrome

    MedlinePlus

    ... turnersyndrome. html • Eunice Kennedy Shriver National Institutes of Child Health & Human Development (NIH): www. nichd. nih. gov/ health/ topics/ Turner_ Syndrome. cfm • Mayo Clinic: www. mayoclinic. com/ health/ turner- ...

  8. Scheie syndrome

    MedlinePlus

    ... for families who have a child with Scheie syndrome, to help them understand the condition and possible treatments. Prenatal testing is available. Alternative Names Mucopolysaccharidosis type I S; MPS ...

  9. Potter syndrome

    MedlinePlus

    Potter phenotype ... In Potter syndrome, the primary problem is kidney failure. The kidneys fail to develop properly as the baby is ... kidneys normally produce the amniotic fluid (as urine). Potter phenotype refers to a typical facial appearance that ...

  10. Behcet's Syndrome

    MedlinePlus

    Behcet's syndrome is a disease that involves vasculitis, which is inflammation of the blood vessels. It causes problems in many parts of the body. The ... National Institute of Arthritis and Musculoskeletal and Skin Diseases

  11. Serotonin syndrome

    MedlinePlus

    ... Increased body temperature Loss of coordination Nausea Overactive reflexes Rapid changes in blood pressure Vomiting ... as confusion or hypomania Muscle spasms (myoclonus) Overactive reflexes ( ... Tremor Uncoordinated movements (ataxia) Serotonin syndrome ...

  12. Down Syndrome

    MedlinePlus

    ... or problems with their heart, stomach or eyes. Intelligence ranges from low normal to very retarded (slow ... a baby who has Down syndrome will be. Intelligence ranges from low normal to very retarded (slow ...

  13. Menkes syndrome

    MedlinePlus

    ... Menkes syndrome, cells in the body can absorb copper, but they are unable to release it. It ... makes it hard for the body to distribute copper in food from the intestines into the bloodstream ...

  14. Noonan syndrome

    MedlinePlus

    ... EKG , chest x-ray , or echocardiogram Hearing tests Growth hormone levels Genetic testing can help diagnose this syndrome. ... will suggest treatment to relieve or manage symptoms. Growth hormone has been used successfully to treat short height ...

  15. Hunter syndrome

    MedlinePlus

    Hunter syndrome is a disease in which long chains of sugar molecules (glycosaminoglycans, formerly called mucopolysaccharides ) are ... of the enzyme iduronate sulfatase. Without this enzyme, chains of sugar molecules build up in various body ...

  16. [Refeeding syndrome].

    PubMed

    Ševela, Stanislav; Novák, František; Kazda, Antonín; Brodská, Helena

    2016-01-01

    Despite being known more than 60 years, refeeding syndrome (RS) still bears many uncertainties. For example, its definition is not clear and definite, and the attitude to it varies from the complete neglect to over-prevention.The term "refeeding syndrome" refers to electrolyte and metabolic changes occurring in malnourished patients after the readministration of nutrition. These changes concern especially to phosphates and ions. Potassium, magnesium, naturism and fluids balance are involved. The changes lead to cell energetic metabolism and electric potential disturbances, with related clinical symptoms.Fully developed refeeding syndrome is quite rare; nevertheless it can be fatal for the patient. However, even its development can lead to many complications increasing the patient's morbidity and the length of stay in the hospital. Yet the refeeding syndrome is more or less predictable and if kept in mind also preventable.The aim of this article is to get the reader to know more about this metabolic phenomenon and possible attitudes towards it.

  17. Cushing's Syndrome

    MedlinePlus

    ... cause is long-term exposure to too much cortisol, a hormone that your adrenal gland makes. Sometimes, ... can cause your body to make too much cortisol. Cushing's syndrome is rare. Some symptoms are Upper ...

  18. Joubert Syndrome

    MedlinePlus

    ... Funding Information Research Programs Training & Career Awards Enhancing Diversity Find People About NINDS NINDS Joubert Syndrome Information ... News From NINDS | Find People | Training | Research | Enhancing Diversity Careers@NINDS | FOIA | Accessibility Policy | Contact Us | Privacy ...

  19. Malabsorption Syndromes

    MedlinePlus

    ... They often include chronic diarrhea, abnormal stools, weight loss, and gas. Your doctor may use lab, imaging, or other tests to make a diagnosis. Treatment of malabsorption syndromes depends on the cause.

  20. [Kabuki syndrome].

    PubMed

    Stankovics, J

    1995-08-20

    Kabuki syndrome is characterised by a peculiar face resembling the make-up of actors in Kabuki, the traditional Japanese theatre, postnatal growth deficiency, mild to moderate mental retardation, unusual dermatoglyphic patterns, and various skeletal and visceral anomalies. The author would like to draw attention to this less known condition in Hungary by a case-report of a 23 months old female patient with Kabuki syndrome. PMID:7651720

  1. Down Syndrome (For Kids)

    MedlinePlus

    ... Got Homework? Here's Help White House Lunch Recipes Down Syndrome KidsHealth > For Kids > Down Syndrome Print A A ... skills. continue Do a Lot of People Have Down Syndrome? Down syndrome is not contagious , so you can' ...

  2. Anesthesia & Down Syndrome

    MedlinePlus

    ... occur in individuals with Down syndrome than their peers without Down syndrome. An awareness of these more ... of the eyes, ears, and joints - just like peers without Down syndrome. What About Down Syndrome Is ...

  3. Sexuality and Down Syndrome

    MedlinePlus

    ... Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q&A for Kids Resources New & Expectant ... Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q&A for Kids Resources New & Expectant ...

  4. Hyperimmunoglobulin E syndrome

    MedlinePlus

    Job syndrome; Hyper IgE syndrome ... Hyperimmunoglobulin E syndrome is also called Job syndrome. It is named after the biblical character Job whose faithfulness was tested by an affliction with draining skin sores and pustules . ...

  5. Androgen insensitivity syndrome

    MedlinePlus

    ... at the tip Reifenstein syndrome (also known as Gilbert-Dreyfus syndrome or Lubs syndrome) Infertile male syndrome ... F, Leveno KJ, Bloom SL, et al., eds. Williams Obstetrics . 23rd ed. New York, NY: McGraw-Hill, ...

  6. Microcephaly syndromes.

    PubMed

    Abuelo, Dianne

    2007-09-01

    The objective of this article is to review microcephaly from a genetics point of view, especially with regard to the process of identification of syndromes in which small head circumference occurs. Microcephaly can be due to either genetic or environmental causes. It can be the only positive finding or may be part of a syndrome of congenital anomalies. The genetic etiology can be caused by autosomal dominant, autosomal recessive, or X-linked genes or various types of chromosome anomalies. Some of the gene mutations have been identified recently. Syndromic microcephaly is associated with a large number of conditions. Some can be diagnosed, or at least suspected, based on their characteristic facial dysmorphism, and others can be searched for using databases of genetic disorders.

  7. Premenstrual syndrome.

    PubMed

    Parker, P D

    1994-11-01

    Premenstrual syndrome is characterized by an array of somatic, cognitive, affective and behavioral disturbances that recur in cyclic fashion during the luteal phase of the menstrual cycle. The goal of management is to control symptoms well enough that the patient can function appropriately at all stages of the menstrual cycle. Both the patient and the physician must acknowledge that premenstrual syndrome is a complex reproductive disorder with a large number of possible manifestations; therefore, they must be willing to consider more than one strategy, and they must allow sufficient time to seek out successful therapeutic options. The patient must play an active role in all stages of management. Although no specific cure for premenstrual syndrome currently exists, most patients experience significant reduction of symptoms and improvement of quality of life when a rational individualized approach is used. Management may involve pharmacologic, nutritional and psychosocial interventions. PMID:7942429

  8. Compartment syndromes

    NASA Technical Reports Server (NTRS)

    Mubarak, S. J.; Pedowitz, R. A.; Hargens, A. R.

    1989-01-01

    The compartment syndrome is defined as a condition in which high pressure within a closed fascial space (muscle compartment) reduces capillary blood perfusion below the level necessary for tissue viability'. This condition occurs in acute and chronic (exertional) forms, and may be secondary to a variety of causes. The end-result of an extended period of elevated intramuscular pressure may be the development of irreversible tissue injury and Volkmann's contracture. The goal of treatment of the compartment syndrome is the reduction of intracompartmental pressure thus facilitating reperfusion of ischaemic tissue and this goal may be achieved by decompressive fasciotomy. Controversy exists regarding the critical pressure-time thresholds for surgical decompression and the optimal diagnostic methods of measuring intracompartmental pressures. This paper will update and review some current knowledge regarding the pathophysiology, aetiology, diagnosis, and treatment of the acute compartment syndrome.

  9. Refeeding syndrome.

    PubMed

    Tripathy, Swagata; Mishra, Padmini; Dash, S C

    2008-07-01

    We report a case of a fifty-year-old male who was admitted with a three month history of increasing weakness, prostration, decreasing appetite and inability to swallow. The patient was a chronic alcoholic, unemployed, and of very poor socioeconomic background. The patient was initially investigated for upper GI malignancy, Addisons disease, bulbar palsy and other endocrinopathies. Concurrent management was started for severe electrolyte abnormalities and enteral nutritional supplementation was begun. By the fourth day of feeding patient developed severe hypophosphatemia and other life-threatening features suggesting refeeding syndrome. The patient was managed for the manifestations of refeeding syndrome. A final diagnosis of chronic alcoholic malnutrition with refeeding syndrome was made. Refeeding of previously starving patients may lead to a variety of complications including sudden death.

  10. Flammer syndrome

    PubMed Central

    2014-01-01

    The new term Flammer syndrome describes a phenotype characterized by the presence of primary vascular dysregulation together with a cluster of symptoms and signs that may occur in healthy people as well as people with disease. Typically, the blood vessels of the subjects with Flammer syndrome react differently to a number of stimuli, such as cold and physical or emotional stress. Nearly all organs, particularly the eye, can be involved. Although the syndrome has some advantages, such as protection against the development of atherosclerosis, Flammer syndrome also contributes to certain diseases, such as normal tension glaucoma. The syndrome occurs more often in women than in men, in slender people than in obese subjects, in people with indoor rather than outdoor jobs, and in academics than in blue collar workers. Affected subjects tend to have cold extremities, low blood pressure, prolonged sleep onset time, shifted circadian rhythm, reduced feeling of thirst, altered drug sensitivity, and increased general sensitivity, including pain sensitivity. The plasma level of endothelin-1 is slightly increased, and the gene expression in lymphocytes is changed. In the eye, the retinal vessels are stiffer and their spatial variability larger; the autoregulation of ocular blood flow is decreased. Glaucoma patients with Flammer syndrome have an increased frequency of the following: optic disc hemorrhages, activated retinal astrocytes, elevated retinal venous pressure, optic nerve compartmentalization, fluctuating diffuse visual field defects, and elevated oxidative stress. Further research should lead to a more concise definition, a precise diagnosis, and tools for recognizing people at risk. This may ultimately lead to more efficient and more personalized treatment. PMID:25075228

  11. Tourette Syndrome

    MedlinePlus

    ... is also possible that many genes with smaller effects and environmental factors may play a role in the development ... Publication No. 12-2163 Back to Tourette Syndrome Information Page See a list ... by: Office of Communications and Public Liaison National Institute of Neurological Disorders ...

  12. Rett Syndrome

    MedlinePlus

    ... binding protein 2 (MeCP2), which is needed for brain development and acts as one of the many biochemical ... the following criteria do not have Rett syndrome: brain injury secondary to ... abnormal psychomotor development in the first 6 months of life. Is ...

  13. Tourette Syndrome

    MedlinePlus

    ... organizations can help kids learn how to explain tics to others. How Should I Act Around Someone Who Has It? Kids who have Tourette syndrome want to be treated like everybody else. They can do regular stuff, just like other kids. In fact, Tim Howard grew up to be a soccer star. ...

  14. Caplan syndrome

    MedlinePlus

    ... who have breathed in mining dust that contains coal. This lung disease is also called coal worker's pneumoconiosis . ... Caplan syndrome is caused by breathing in coal mining dust. This ... of many small lumps in the lungs and an airway disease similar ...

  15. Rett Syndrome.

    ERIC Educational Resources Information Center

    Culbert, Linda A.

    This pamphlet reviews the historical process involved in initially recognizing Rett Syndrome as a specific disorder in girls. Its etiology is unknown, but studies have considered factors as hyperammonemia, a two-step mutation, a fragile X chromosome, metabolic disorder, environmental causation, dopamine deficiency, and an inactive X chromosome.…

  16. Overtraining syndrome.

    PubMed Central

    Budgett, R

    1990-01-01

    This review discusses the overtraining syndrome which is characterized by fatigue and underperformance precipitated by stress of training. Other stresses, depression and an increased susceptibility to infections may be important. Treatment requires rest and a stress management program over 3 months. PMID:2097018

  17. Aicardi syndrome

    MedlinePlus

    ... rare cases, one of these features may be missing (especially lack of development of the corpus callosum). Tests to diagnose Aicardi syndrome include: CT scan of the head EEG Eye exam MRI Other procedures and tests may be done, depending on the person.

  18. Sotos syndrome.

    PubMed

    Baujat, Geneviève; Cormier-Daire, Valérie

    2007-01-01

    Sotos syndrome is an overgrowth condition characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty, and associated with variable minor features. The exact prevalence remains unknown but hundreds of cases have been reported. The diagnosis is usually suspected after birth because of excessive height and occipitofrontal circumference (OFC), advanced bone age, neonatal complications including hypotonia and feeding difficulties, and facial gestalt. Other inconstant clinical abnormalities include scoliosis, cardiac and genitourinary anomalies, seizures and brisk deep tendon reflexes. Variable delays in cognitive and motor development are also observed. The syndrome may also be associated with an increased risk of tumors. Mutations and deletions of the NSD1 gene (located at chromosome 5q35 and coding for a histone methyltransferase implicated in transcriptional regulation) are responsible for more than 75% of cases. FISH analysis, MLPA or multiplex quantitative PCR allow the detection of total/partial NSD1 deletions, and direct sequencing allows detection of NSD1 mutations. The large majority of NSD1 abnormalities occur de novo and there are very few familial cases. Although most cases are sporadic, several reports of autosomal dominant inheritance have been described. Germline mosaicism has never been reported and the recurrence risk for normal parents is very low (<1%). The main differential diagnoses are Weaver syndrome, Beckwith-Wiedeman syndrome, Fragile X syndrome, Simpson-Golabi-Behmel syndrome and 22qter deletion syndrome. Management is multidisciplinary. During the neonatal period, therapies are mostly symptomatic, including phototherapy in case of jaundice, treatment of the feeding difficulties and gastroesophageal reflux, and detection and treatment of hypoglycemia. General pediatric follow-up is important during the first years of life to allow detection

  19. The Source for Syndromes.

    ERIC Educational Resources Information Center

    Richard, Gail J.; Hoge, Debra Reichert

    Designed for practicing speech-language pathologists, this book discusses different syndrome disabilities, pertinent speech-language characteristics, and goals and strategies to begin intervention efforts at a preschool level. Chapters address: (1) Angelman syndrome; (2) Asperger syndrome; (3) Down syndrome; (4) fetal alcohol syndrome; (5) fetal…

  20. Paraneoplastic syndromes

    SciTech Connect

    Weller, R.E.

    1994-03-01

    Paraneoplastic syndromes (PNS) comprise a diverse group of disorders that are associated with cancer but unrelated to the size, location, metastases, or physiologic activities of the mature tissue of origin. They are remote effects of tumors that may appear as signs, symptoms, or syndromes which can mimic other disease conditions encountered in veterinary medicine. Recognition of PNS is valuable for several reasons: the observed abnormalities may represent tumor cell markers and facilitate early diagnosis of the tumor; they may allow assessment of premalignant states; they may aid in the search metastases; they may help quantify and monitor response to therapy; and, they may provide insight into the study of malignant transformation and oncogene expression. This review will concentrate on the pathophysiology, diagnosis, and treatment of some of the common PNS encountered in veterinary medicine.

  1. Fluency Disorders in Genetic Syndromes

    ERIC Educational Resources Information Center

    Van Borsel, John; Tetnowski, John A.

    2007-01-01

    The characteristics of various genetic syndromes have included "stuttering" as a primary symptom associated with that syndrome. Specifically, Down syndrome, fragile X syndrome, Prader-Willi syndrome, Tourette syndrome, Neurofibromatosis type I, and Turner syndrome all list "stuttering" as a characteristic of that syndrome. An extensive review of…

  2. [Fibromyalgia syndrome].

    PubMed

    Naranjo Hernández, A; Rodríguez Lozano, C; Ojeda Bruno, S

    1992-02-01

    The Fibromialgia Syndrome (FS) is a common clinical entity which may produce symtoms and signs related to multiple fields of Medicine. Typical clinical characteristics of FS include extensive pain, presence of sensitive points during exploration, morning stiffness, asthenia and non-refresing sleep. Frequently, associated rheumatologic diseases are observed, as rheumatoid arthritis, osteoarthrosis and vertebral disorders. In FS, complementary tests are usually normal. The most widely accepted hypothesis suggests that this is a disorder affecting modulation of pain sensitivity.

  3. Heart and Down Syndrome

    MedlinePlus

    ... Associated Conditions » The Heart & Down Syndrome The Heart & Down Syndrome Abnormalities of the cardiovascular system are common in ... the Most Common Heart Defects in Children With Down Syndrome? The most common defects are Atrioventricular Septal Defect ( ...

  4. What is Down Syndrome?

    MedlinePlus

    ... NICHD Research Information Clinical Trials Resources and Publications Down Syndrome: Condition Information Skip sharing on social media links Share this: Page Content What is Down syndrome? Down syndrome describes a set of cognitive and ...

  5. Tethered Spinal Cord Syndrome

    MedlinePlus

    ... Enhancing Diversity Find People About NINDS NINDS Tethered Spinal Cord Syndrome Information Page Table of Contents (click to ... being done? Clinical Trials Organizations What is Tethered Spinal Cord Syndrome? Tethered spinal cord syndrome is a neurological ...

  6. Reye syndrome - resources

    MedlinePlus

    Resources - Reye syndrome ... The following organizations are good resources for information on Reye Syndrome : National Reye's Syndrome Foundation, Inc. -- www.reyessyndrome.org National Institute of Neurologic Disorders and Stroke -- www. ...

  7. Paraneoplastic syndromes

    SciTech Connect

    Weller, R.E.

    1986-10-01

    Paraneoplastic syndromes (PNS) comprise a diverse group of disorders that are associated with cancer but unrelated to the size, location, metastases, or physiologic activities of the mature tissue of origin. They are remote effects of tumors that may appear as signs, symptoms or syndromes which can mimic other disease conditions encountered in veterinary medicine. Various types of PNS, singly or in multiples, may be associated with either benign or malignant tumors and may involve almost every organ system, directly or indirectly. These disorders can precede the discovery of the tumor by weeks, months, or even years, and many are good diagnostic and prognostic indicators. The true incidence of PNS in animal cancer patients is unknown, although approximately 75% of all human cancer patients, at some time during the tumor-bearing part of their lives, suffer from one or more of these disorders. Recognition of PNS is valuable because the observed abnormalities may represent tumor cell markers and facilitate early diagnosis of the tumor, because they may allow assessment of premalignant states, because they may aid in the search for metastases, because they may help quantify and monitor response to therapy, and because they may provide insight into the study of malignant transformations and oncogene expression. Recognition of these syndromes is relevant to the diagnosis and treatment of many problems in veterinary cancer medicine. 22 refs., 2 tabs.

  8. Acrodysostosis syndromes.

    PubMed

    Silve, C; Le-Stunff, C; Motte, E; Gunes, Y; Linglart, A; Clauser, E

    2012-01-01

    Acrodysostosis (ADO) refers to a heterogeneous group of rare skeletal dysplasia that share characteristic features including severe brachydactyly, facial dysostosis and nasal hypoplasia. The literature describing acrodysostosis cases has been confusing because some reported patients may have had other phenotypically related diseases presenting with Albright Hereditary Osteodystrophy (AHO) such as pseudohypoparathyroidism type 1a (PHP1a) or pseudopseudohypoparathyroidism (PPHP). A question has been whether patients display or not abnormal mineral metabolism associated with resistance to PTH and/or resistance to other hormones that bind G-protein coupled receptors (GPCR) linked to Gsα, as observed in PHP1a. The recent identification in patients affected with acrodysostosis of defects in two genes, PRKAR1A and PDE4D, both important players in the GPCR-Gsα-cAMP-PKA signaling, has helped clarify some issues regarding the heterogeneity of acrodysostosis, in particular the presence of hormonal resistance. Two different genetic and phenotypic syndromes are now identified, both with a similar bone dysplasia: ADOHR, due to PRKAR1A defects, and ADOP4 (our denomination), due to PDE4D defects. The existence of GPCR-hormone resistance is typical of the ADOHR syndrome. We review here the PRKAR1A and PDE4D gene defects and phenotypes identified in acrodysostosis syndromes, and discuss them in view of phenotypically related diseases caused by defects in the same signaling pathway. PMID:24363928

  9. CUSHING'S SYNDROME

    PubMed Central

    Wilkinson, Allan B.

    1961-01-01

    Sixteen cases of verified Cushing's syndrome, and twelve cases of probable Cushing's syndrome were reviewed and data on them were compared with various reports on Cushing's syndrome in the literature. The diagnosis hinges upon a high index of suspicion, and one or several of the major criteria may be lacking. Ultimate establishment of correct diagnosis should be based largely on the clinical features, although stimulation and suppression tests may help to confirm a clinical diagnosis. In well-established clinical cases, with borderline laboratory confirmation, exploration may be justified, especially if tests fail to identify a specific cause. In cases of adrenal cortical tumor, all pathological tissue should be removed if possible, with great care to support and stimulate the remaining atrophic adrenal gland during and following operation. In cases of bilateral adrenal cortical hyperplasia, the problem is one of how much to remove. At present most investigators advocate radical subtotal resection, leaving less than 10 per cent of one side. ImagesFigure 1.Figure 2.Figure 3.Figure 4.Figure 5.Figure 6. PMID:13785315

  10. Nutcracker syndrome

    PubMed Central

    Gulleroglu, Kaan; Gulleroglu, Basak; Baskin, Esra

    2014-01-01

    The nutcracker phenomenon [left renal vein (LRV) entrapment syndrome] refers to compression of the LRV most commonly between abdominal aorta and superior mesenteric artery. Term of nutcracker syndrome (NCS) is used for patients with clinical symptoms associated with nutcracker anatomy. LRV entrapment divided into 2 types: anterior and posterior. Posterior and right-sided NCSs are rare conditions. The symptoms vary from asymptomatic hematuria to severe pelvic congestion. Symptoms include hematuria, orthostatic proteinuria, flank pain, abdominal pain, varicocele, dyspareunia, dysmenorrhea, fatigue and orthostatic intolerance. Existence of the clinical features constitutes a basis for the diagnosis. Several imaging methods such as Doppler ultrasonography, computed tomography angiography, magnetic resonance angiography and retrograde venography are used to diagnose NCS. The management of NCS depends upon the clinical presentation and the severity of the LRV hypertension. The treatment options are ranged from surveillance to nephrectomy. Treatment decision should be based on the severity of symptoms and their expected reversibility with regard to patient’s age and the stage of the syndrome. PMID:25374822

  11. Nutcracker syndrome.

    PubMed

    Gulleroglu, Kaan; Gulleroglu, Basak; Baskin, Esra

    2014-11-01

    The nutcracker phenomenon [left renal vein (LRV) entrapment syndrome] refers to compression of the LRV most commonly between abdominal aorta and superior mesenteric artery. Term of nutcracker syndrome (NCS) is used for patients with clinical symptoms associated with nutcracker anatomy. LRV entrapment divided into 2 types: anterior and posterior. Posterior and right-sided NCSs are rare conditions. The symptoms vary from asymptomatic hematuria to severe pelvic congestion. Symptoms include hematuria, orthostatic proteinuria, flank pain, abdominal pain, varicocele, dyspareunia, dysmenorrhea, fatigue and orthostatic intolerance. Existence of the clinical features constitutes a basis for the diagnosis. Several imaging methods such as Doppler ultrasonography, computed tomography angiography, magnetic resonance angiography and retrograde venography are used to diagnose NCS. The management of NCS depends upon the clinical presentation and the severity of the LRV hypertension. The treatment options are ranged from surveillance to nephrectomy. Treatment decision should be based on the severity of symptoms and their expected reversibility with regard to patient's age and the stage of the syndrome.

  12. Inherited ichthyosis: Syndromic forms.

    PubMed

    Yoneda, Kozo

    2016-03-01

    Among diseases that cause ichthyosis as one of the symptoms, there are some diseases that induce abnormalities in organs other than the skin. Of these, diseases with characteristic signs are regarded as syndromes. Although these syndromes are very rare, Netherton syndrome, Sjögren-Larsson syndrome, Conradi-Hünermann-Happle syndrome, Dorfman-Chanarin syndrome, ichthyosis follicularis, atrichia and photophobia (IFAP) syndrome, and Refsum syndrome have been described in texts as representative ones. It is important to know the molecular genetics and pathomechanisms in order to establish an effective therapy and beneficial genetic counseling including a prenatal diagnosis.

  13. Proteus Syndrome Foundation

    MedlinePlus

    ... Criteria & FAQs Medical Research Glossary Donate Cash Donation Life Insurance Gift Matching Gift Stock Gift Sunshine Society Contact Privacy Policy Proteus Syndrome Foundation The Proteus Syndrome Foundation , a ...

  14. Morvan Syndrome

    PubMed Central

    Maskery, Mark; Chhetri, Suresh K.; Dayanandan, Rejith; Gall, Claire

    2016-01-01

    A 74-year-old gentleman was admitted to the regional neurosciences center with encephalopathy, myokymia, and dysautonomia. Chest imaging had previously identified an incidental mass in the anterior mediastinum, consistent with a primary thymic tumor. Antivoltage-gated potassium channel (anti-VGKC) antibodies were positive (titer 1273 pmol/L) and he was hypokalemic. Electromyogram and nerve conduction studies were in keeping with peripheral nerve hyperexcitability syndrome, and an electroencephalogram was consistent with encephalopathy. A diagnosis of Morvan syndrome was made, for which he was initially treated with high-dose steroids, followed by a 5-day course of intravenous immunoglobulin (IVIG) therapy. He also underwent thymectomy, followed by a postexcision flare of his symptoms requiring intensive care management. Further steroids, plasmapheresis, and IVIG achieved stabilization of his clinical condition, enabling transfer for inpatient neurorehabilitation. He was commenced on azathioprine and a prolonged oral steroid taper. A subsequent presumed incipient relapse responded well to further IVIG treatment. This case report documents a thymoma-associated presentation of anti-VGKC-positive Morvan syndrome supplemented by patient and carer narrative and video, both of which provide valuable further insights into this rare disorder. There are a limited number of publications surrounding this rare condition available in the English literature. This, combined with the heterogenous presentation, association with underlying malignancy, response to treatment, and prognosis, provides a diagnostic challenge. However, the association with anti-VGKC antibody-associated complexes and 2 recent case series have provided some scope for both accurate diagnosis and management. PMID:26740856

  15. Postgastrectomy syndromes.

    PubMed

    Brooke-Cowden, G L; Braasch, J W; Gibb, S P; Haggitt, R C; McDermott, W V

    1976-04-01

    Postgastrectomy syndromes requiring further operation are fortunately uncommon, as the symptoms are disabling and the results of corrective surgery are, at times, disappointing. Our sixty-six patients underwent a total of seventy-six procedures with forty-one successful results and thirty-five failures. Among the secessful group, only fourteen results were graded as excellent. (Table V.) Our experience, like that of others, demonstrates the necessity of accurate evaluation of the patient and of accurate syndrome classification. This not only allows the appropriate operation to be chosen but also helps to indicate those in whom operation should be avoided. Where more than one surgically remediable syndrome exists, simultaneous correction should be undertaken. Treatment of the mechanical problems of obstructed afferent loop by jejunojejunostomy and of stomal obstruction by complete stomal reconstruction provides satisfactory results. Roux-en-Y anastomosis is effective in patients with alkaline gastritis, but we caution against the use of this procedure in patients with vague symptoms and minimal endoscopic changes. Antiperistaltic jejunal reversal is the procedure of choice in managing severe postvagotomy diarrhea. Although most patients with dumping can be managed conservatively, a small number with severe symptoms and nutritional problems cannot and require further operation. Our experience with conversion from Billroth II to Billroth I and with isoperistaltic interposition, although minimal, has been reasonably satisfactory. Four groups of patients remain with symptoms of chronic vomiting, late postvagotomy atonic stomach, dumping "plus," and miscellaneous symptoms. These patients have complaints that are difficult to define and usually have poor results with further operations. We believe that surgery should be avoided in these patients and that conservative measures be continued.

  16. Postmenopausal syndrome

    PubMed Central

    Dalal, Pronob K.; Agarwal, Manu

    2015-01-01

    Menopause is one of the most significant events in a woman's life and brings in a number of physiological changes that affect the life of a woman permanently. There have been a lot of speculations about the symptoms that appear before, during and after the onset of menopause. These symptoms constitute the postmenopausal syndrome; they are impairing to a great extent to the woman and management of these symptoms has become an important field of research lately. This chapter attempts to understand these symptoms, the underlying pathophysiology and the management options available. PMID:26330639

  17. Refeeding syndrome.

    PubMed

    Fuentebella, Judy; Kerner, John A

    2009-10-01

    Refeeding syndrome (RFS) is the result of aggressive enteral or parenteral feeding in a malnourished patient, with hypophosphatemia being the hallmark of this phenomenon. Other metabolic abnormalities, such as hypokalemia and hypomagnesemia, may also occur, along with sodium and fluid retention. The metabolic changes that occur in RFS can be severe enough to cause cardiorespiratory failure and death. This article reviews the pathophysiology, the clinical manifestations, and the management of RFS. The key to prevention is identifying patients at risk and being aware of the potential complications involved in rapidly reintroducing feeds to a malnourished patient.

  18. Tourette Syndrome

    PubMed Central

    Murray, T. J.

    1982-01-01

    Tourette syndrome (Gilles de la Tourette disease) is a disorder of involuntary muscular tics, vocalizations and compulsive behavior. The tics and muscle movements vary in form and course; the complex repetitive patterns are eventually replaced by other patterns. The vocalization may be in the form of sounds, words or profanities and sometimes echolalia, echopraxia and palilalia. The onset may be from age two to 15 but is usually between ages eight and 12. Recent studies suggest that there is a hypersensitivity of dopamine receptors. Most patients respond well to haloperidol, but other drugs that may be of value include clonidine, pimozide, fluphenazine and trifluoroperazine. PMID:21286050

  19. Robinow syndrome

    PubMed Central

    Suresh, SS

    2008-01-01

    Robinow syndrome is a rare autosomal recessive mesomelic dwarfism with just more than 100 cases reported in the literature so far. The lower extremity is spared with skeletal deformity usually confined to the forearm, hand, and the dorsal spine. Diagnosis is made easily in the early childhood by the typical “fetal facies” appearance, which disappears to a certain extent as the patient grows. The author reports two cases of this entity with vertebral segmentation defects, rib fusion, and typical severe brachymelia and facial features. PMID:19753239

  20. Cushing's syndrome.

    PubMed

    Howlett, T A; Rees, L H; Besser, G M

    1985-11-01

    Cushing's syndrome remains one of the most challenging problems in clinical endocrinology. Cushing's disease is caused in the majority of cases by basophil pituitary microadenomas which may be successfully treated by trans-sphenoidal hypophysectomy. Treatment with metyrapone or o,p'-DDD can always induce a clinical remission but not a cure, and neurotransmitter therapy may be effective in a minority of cases. Pituitary irradiation cures about half of cases in the long-term and may be used for surgical failures. Tumours producing ectopic ACTH are frequently benign, small and occult and may produce a syndrome clinically indistinguishable from Cushing's disease. Biochemical investigations cannot absolutely distinguish pituitary from ectopic sources of ACTH and therefore body CT scanning and percatheter venous sampling are essential diagnostic investigations. Tumour localization may result in resection and complete cure, although even small tumours may have a malignant potential. Adrenal tumours are readily diagnosed by plasma ACTH measurement and adrenal CT scanning. Adrenal adenomas are cured by adrenalectomy. Carcinomas may be treated by a combination of adrenalectomy, radiotherapy and o,p'-DDD, but long-term prognosis is poor.

  1. Allergic acute coronary syndrome (Kounis syndrome)

    PubMed Central

    Chhabra, Lovely; Masrur, Shihab; Parker, Matthew W.

    2015-01-01

    Anaphylaxis rarely manifests as a vasospastic acute coronary syndrome with or without the presence of underlying coronary artery disease. The variability in the underlying pathogenesis produces a wide clinical spectrum of this syndrome. We present three cases of anaphylactic acute coronary syndrome that display different clinical variants of this phenomenon. The main pathophysiological mechanism of the allergic anginal syndromes is the inflammatory mediators released during a hypersensitivity reaction triggered by food, insect bites, or drugs. It is important to appropriately recognize and treat Kounis syndrome in patients with exposure to a documented allergen. PMID:26130889

  2. Metabolic Syndrome: Polycystic Ovary Syndrome.

    PubMed

    Mortada, Rami; Williams, Tracy

    2015-08-01

    Polycystic ovary syndrome (PCOS) is a heterogeneous condition characterized by androgen excess, ovulatory dysfunction, and polycystic ovaries. It is the most common endocrinopathy among women of reproductive age, affecting between 6.5% and 8% of women, and is the most common cause of infertility. Insulin resistance is almost always present in women with PCOS, regardless of weight, and they often develop diabetes and metabolic syndrome. The Rotterdam criteria are widely used for diagnosis. These criteria require that patients have at least two of the following conditions: hyperandrogenism, ovulatory dysfunction, and polycystic ovaries. The diagnosis of PCOS also requires exclusion of other potential etiologies of hyperandrogenism and ovulatory dysfunction. The approach to PCOS management differs according to the presenting symptoms and treatment goals, particularly the patient's desire for pregnancy. Weight loss through dietary modifications and exercise is recommended for patients with PCOS who are overweight. Oral contraceptives are the first-line treatment for regulating menstrual cycles and reducing manifestations of hyperandrogenism, such as acne and hirsutism. Clomiphene is the first-line drug for management of anovulatory infertility. Metformin is recommended for metabolic abnormalities such as prediabetes, and a statin should be prescribed for cardioprotection if the patient meets standard criteria for statin therapy.

  3. Syndromes with supernumerary teeth.

    PubMed

    Lubinsky, Mark; Kantaputra, Piranit Nik

    2016-10-01

    While most supernumerary teeth are idiopathic, they can be associated with a number of Mendelian syndromes. However, this can also be a coincidental finding, since supernumerary teeth occur in 6% or more of the normal population. To better define this relationship, we analyzed the evidence for specific associations. We excluded conditions with a single affected patient reported, supernumerary teeth adjacent to clefts or other forms of alveolar disruption (as secondary rather than primary findings), and natal teeth, which can involve premature eruption of a normal tooth. Since, the cause of supernumerary teeth shows considerable heterogeneity, certain findings are less likely to be coincidental, such as five or more supernumerary teeth in a single patient, or locations outside of the premaxilla. We found only eight genetic syndromes with strong evidence for an association: cleidocranial dysplasia; familial adenomatous polyposis; trichorhinophalangeal syndrome, type I; Rubinstein-Taybi syndrome; Nance-Horan syndrome; Opitz BBB/G syndrome; oculofaciocardiodental syndrome; and autosomal dominant Robinow syndrome. There is also suggestive evidence of an association with two uncommon disorders, Kreiborg-Pakistani syndrome (craniosynostosis and dental anomalies), and insulin-resistant diabetes mellitus with acanthosisnigricans. An association of a Mendelian disorder with a low frequency manifestation of supernumerary teeth is difficult to exclude without large numbers, but several commonly cited syndromes lacked evidence for clear association, including Hallermann-Streiff syndrome, Fabry disease, Ehlers-Danlos syndrome, Apert and Crouzon syndromes, Zimmermann-Laband syndrome, and Ellis-van Creveld syndrome. © 2016 Wiley Periodicals, Inc.

  4. Syndromes with supernumerary teeth.

    PubMed

    Lubinsky, Mark; Kantaputra, Piranit Nik

    2016-10-01

    While most supernumerary teeth are idiopathic, they can be associated with a number of Mendelian syndromes. However, this can also be a coincidental finding, since supernumerary teeth occur in 6% or more of the normal population. To better define this relationship, we analyzed the evidence for specific associations. We excluded conditions with a single affected patient reported, supernumerary teeth adjacent to clefts or other forms of alveolar disruption (as secondary rather than primary findings), and natal teeth, which can involve premature eruption of a normal tooth. Since, the cause of supernumerary teeth shows considerable heterogeneity, certain findings are less likely to be coincidental, such as five or more supernumerary teeth in a single patient, or locations outside of the premaxilla. We found only eight genetic syndromes with strong evidence for an association: cleidocranial dysplasia; familial adenomatous polyposis; trichorhinophalangeal syndrome, type I; Rubinstein-Taybi syndrome; Nance-Horan syndrome; Opitz BBB/G syndrome; oculofaciocardiodental syndrome; and autosomal dominant Robinow syndrome. There is also suggestive evidence of an association with two uncommon disorders, Kreiborg-Pakistani syndrome (craniosynostosis and dental anomalies), and insulin-resistant diabetes mellitus with acanthosisnigricans. An association of a Mendelian disorder with a low frequency manifestation of supernumerary teeth is difficult to exclude without large numbers, but several commonly cited syndromes lacked evidence for clear association, including Hallermann-Streiff syndrome, Fabry disease, Ehlers-Danlos syndrome, Apert and Crouzon syndromes, Zimmermann-Laband syndrome, and Ellis-van Creveld syndrome. © 2016 Wiley Periodicals, Inc. PMID:27250821

  5. [Hepatopulmonary syndrome].

    PubMed

    Thévenot, Thierry; Weil, Delphine; Garioud, Armand; Lison, Hortensia; Cadranel, Jean-François; Degano, Bruno

    2016-05-01

    Hepatopulmonary syndrome (HPS) is defined by the association of portal hypertension, increased alveolar-arterial oxygen gradient and intrapulmonary vascular dilations. Pathophysiological mechanisms of hypoxemia are characterized by ventilation-perfusion mismatch, oxygen diffusion limitation between alveolus and the centre of the dilated capillary, and right-to-left shunting. An excess of vasodilator molecules (like nitric monoxide) and proangiogenic factors (like VEGF) play an important role in the occurrence of HPS. Symptoms of HPS are not specific and dominated by a progressive dyspnea in upright position. Pulse oximetry is a simple non-invasive screening test but only detect the most severe forms of HPS. Medical treatment is disappointing and only liver transplantation may lead to resolution of HPS. Survival following liver transplantation is promising when hypoxemia is not severely decreased. PMID:27021476

  6. Noonan syndrome.

    PubMed

    Turner, Anne M

    2014-10-01

    Noonan syndrome is a common autosomal dominant condition, readily recognisable in childhood. It is characterised by a pattern of typical facial dysmorphism and malformations including congenital cardiac defects, short stature, abnormal chest shape, broad or webbed neck, and a variable learning disability. Mildly affected adults may not be diagnosed until the birth of a more obviously affected child. The phenotype is highly variable. Important progress in understanding the molecular basis of this and other related conditions was made in 2001 when germline mutations in the PTPN11 gene were found to account for ∼50% of cases. Since then, mutations in additional genes in the rat sarcoma (RAS) pathway have been identified in a proportion of the remainder. Molecular confirmation of diagnosis is now possible for many families and has become increasingly important in guiding management. Increased awareness by paediatricians will lead to earlier diagnosis, and provide patients and their families with accurate genetic counselling, including options when planning pregnancy.

  7. Extrapyramidal syndrome

    PubMed Central

    Panda, Akhila Kumar; Bala, Kiran; Bhirud, Lomesh

    2014-01-01

    Organophosphate (OP) poisoning is a common occurrence in the rural areas of developing countries like India. Acute cholinergic crisis is one of the important causes of mortality related to OP poisoning. Delayed peripheral neuropathy, extrapyramidal syndromes and neuropsychiatric manifestations are the major consequences of secondary neuronal damage. This case illustrates a 14-year-old girl who ingested 50 mL of OP pesticide and developed extrapyramidal symptoms in the form of parkinsonism and hand dystonia in spite of immediate medical attention. MRI of the brain with T2, fluid attenuated inversion recovery and diffusion-weighted sequences revealed bilateral symmetrical basal ganglia hyperintensities. Further follow-up revealed a significant clinical improvement with marked resolutions of the brain lesions. The reversible extrapyramidal symptoms with disappearance of neuroimaging findings without neuropathy or neuropsychiatric manifestations are unusual in OP poisoning. PMID:24398867

  8. Rett Syndrome

    PubMed Central

    Smeets, E.E.J.; Pelc, K.; Dan, B.

    2012-01-01

    Rett syndrome is one of the most common causes of complex disability in girls. It is characterized by early neurological regression that severely affects motor, cognitive and communication skills, by autonomic dysfunction and often a seizure disorder. It is a monogenic X-linked dominant neurodevelopmental disorder related to mutation in MECP2, which encodes the methyl-CpG-binding protein MeCP2. There are several mouse models either based on conditional knocking out of the Mecp2 gene or on a truncating mutation. We discuss the clinical aspects with special emphasis on the behavioral phenotype and we review current perspectives in clinical management alongside with perspectives in altering gene expression. PMID:22670134

  9. Burning Mouth Syndrome and "Burning Mouth Syndrome".

    PubMed

    Rifkind, Jacob Bernard

    2016-03-01

    Burning mouth syndrome is distressing to both the patient and practitioner unable to determine the cause of the patient's symptoms. Burning mouth syndrome is a diagnosis of exclusion, which is used only after nutritional deficiencies, mucosal disease, fungal infections, hormonal disturbances and contact stomatitis have been ruled out. This article will explore the many causes and treatment of patients who present with a chief complaint of "my mouth burns," including symptomatic treatment for those with burning mouth syndrome. PMID:27209717

  10. Burning Mouth Syndrome and "Burning Mouth Syndrome".

    PubMed

    Rifkind, Jacob Bernard

    2016-03-01

    Burning mouth syndrome is distressing to both the patient and practitioner unable to determine the cause of the patient's symptoms. Burning mouth syndrome is a diagnosis of exclusion, which is used only after nutritional deficiencies, mucosal disease, fungal infections, hormonal disturbances and contact stomatitis have been ruled out. This article will explore the many causes and treatment of patients who present with a chief complaint of "my mouth burns," including symptomatic treatment for those with burning mouth syndrome.

  11. Tourette Syndrome

    PubMed Central

    Chan, Lisa; Lehman, Erik; Brown, Ashley D.; Ahmad, Syeda; Berlin, Cheston

    2015-01-01

    A retrospective analysis of a 35-year single-center experience with pediatric tics and Tourette syndrome was conducted. 482 charts from 1972 to 2007 were reviewed. Follow-up surveys were mailed to last known address and 83 patients responded (17%). Response rate was affected by long interval from last visit; contact information was often incorrect as it was the address of the patient as a child. Males constituted 84%. Mean tic onset was 6.6 years. At first visit, 83% had multiple motor tics and >50% had comorbidities. 44% required only 1 visit and 90% less than 12 visits. Follow-up showed positive clinical and social outcomes in 73/83 survey responses. Of those indicating a poor outcome, mean educational level was lower and attention deficit/hyperactivity disorder and learning disabilities were significantly higher. Access to knowledgeable caregivers was a problem for adult patients. A shortage of specialists may in part be addressed by interested general pediatricians. PMID:25200367

  12. Angelman Syndrome.

    PubMed

    Margolis, Seth S; Sell, Gabrielle L; Zbinden, Mark A; Bird, Lynne M

    2015-07-01

    In this review we summarize the clinical and genetic aspects of Angelman syndrome (AS), its molecular and cellular underpinnings, and current treatment strategies. AS is a neurodevelopmental disorder characterized by severe cognitive disability, motor dysfunction, speech impairment, hyperactivity, and frequent seizures. AS is caused by disruption of the maternally expressed and paternally imprinted UBE3A, which encodes an E3 ubiquitin ligase. Four mechanisms that render the maternally inherited UBE3A nonfunctional are recognized, the most common of which is deletion of the maternal chromosomal region 15q11-q13. Remarkably, duplication of the same chromosomal region is one of the few characterized persistent genetic abnormalities associated with autistic spectrum disorder, occurring in >1-2% of all cases of autism spectrum disorder. While the overall morphology of the brain and connectivity of neural projections appear largely normal in AS mouse models, major functional defects are detected at the level of context-dependent learning, as well as impaired maturation of hippocampal and neocortical circuits. While these findings demonstrate a crucial role for ubiquitin protein ligase E3A in synaptic development, the mechanisms by which deficiency of ubiquitin protein ligase E3A leads to AS pathophysiology in humans remain poorly understood. However, recent efforts have shown promise in restoring functions disrupted in AS mice, renewing hope that an effective treatment strategy can be found. PMID:26040994

  13. Marfan syndrome (image)

    MedlinePlus

    ... abnormalities, which may include enlargement (dilatation) of the base of the aorta. Since Marfan syndrome is usually an inherited disorder, prospective parents with a family history of Marfan syndrome should get genetic counseling.

  14. Lennox-Gastaut Syndrome

    MedlinePlus

    ... Lennox-Gastaut syndrome is a severe form of epilepsy. Seizures usually begin before 4 years of age. ... broad program of basic and clinical research on epilepsy including Lennox-Gastaut syndrome. These studies are aimed ...

  15. Fragile X Syndrome.

    ERIC Educational Resources Information Center

    de la Cruz, Felix F.

    1985-01-01

    Physical, psychological, and cytogenic characteristics of individuals with the Fragile X syndrome are reviewed. Prospects for therapy with folic acid, prenatal diagnosis, phenotype of heterozygote for the marker X, and unresolved issues about the syndrome are discussed. (CL)

  16. Neonatal respiratory distress syndrome

    MedlinePlus

    Hyaline membrane disease (HMD); Infant respiratory distress syndrome; Respiratory distress syndrome in infants; RDS - infants ... Neonatal RDS occurs in infants whose lungs have not yet fully ... disease is mainly caused by a lack of a slippery substance in ...

  17. Premenstrual Syndrome (PMS) FAQ

    MedlinePlus

    ... PMS) Patient Education FAQs Premenstrual Syndrome (PMS) Patient Education Pamphlets - Spanish Premenstrual Syndrome (PMS) FAQ057, May 2015 PDF Format ... Your Practice Patient Safety & Quality Payment Reform (MACRA) Education & Events Annual ... Pamphlets Teen Health About ACOG About Us Leadership & ...

  18. Anisocoria and Horner's Syndrome

    MedlinePlus

    ... In children, Horner’s syndrome may be caused by neuroblastoma, a tumor arising in another part of the body. Although rare, the risk of neuroblastoma is significantly greater with acquired Horner’s syndrome than ...

  19. Polycystic ovary syndrome

    MedlinePlus

    Polycystic ovaries; Polycystic ovary disease; Stein-Leventhal syndrome; Polyfollicular ovarian disease; PCOS ... RL, Barnes RB, Ehrmann DA. Hyperandrogenism, hirsuitism, and polycystic ovary syndrome. In: Jameson JL, De Groot LJ, de Kretser ...

  20. Scalded skin syndrome

    MedlinePlus

    Ritter disease; Staphylococcal scalded skin syndrome (SSS) ... Scalded skin syndrome (SSS) is caused by infection with certain strains of Staphylococcus bacteria. The bacteria produce a toxin that causes the skin ...

  1. What Is Down Syndrome?

    MedlinePlus

    ... chromosome. What Is the Likelihood of Having a Second Child with Down Syndrome? Once a woman has ... Down syndrome. Amniocentesis is usually performed in the second trimester between 15 and 20 weeks of gestation, ...

  2. Restless Legs Syndrome Foundation

    MedlinePlus

    ... Syndrome Foundation is a registered 501(c)3 non-profit corporation (Tax ID #56-1784846). Donations are tax- ... Syndrome Foundation is a registered 501(c)3 non-profit corporation (Tax ID #56-1784846). Donations are tax- ...

  3. Klippel-Trenaunay syndrome

    MedlinePlus

    ... present at birth. The syndrome often involves port wine stains, excess growth of bones and soft tissue, ... Symptoms of Klippel-Trenaunay syndrome include: Many port wine stains or other blood vessel problems, including dark ...

  4. Hantavirus Pulmonary Syndrome (HPS)

    MedlinePlus

    ... this page: About CDC.gov . Hantavirus Share Compartir Hantavirus Pulmonary Syndrome (HPS) Severe HPS. Image courtesy D. ... the workers showed evidence of infection or illness. Hantavirus Pulmonary Syndrome (HPS) Topics Transmission Where HPS is ...

  5. Obesity Hypoventilation Syndrome

    MedlinePlus

    ... Twitter. What Is Obesity Hypoventilation Syndrome? Obesity hypoventilation (HI-po-ven-tih-LA-shun) syndrome (OHS) is ... e-DE-mah), pulmonary hypertension (PULL-mun-ary HI-per-TEN-shun), cor pulmonale (pul-meh-NAL- ...

  6. Chinese restaurant syndrome

    MedlinePlus

    Chinese restaurant syndrome is a set of symptoms that some people have after eating Chinese food. A food additive ... Chinese restaurant syndrome is most often diagnosed based on the symptoms. The health care provider may ask the following ...

  7. Treacher Collins syndrome

    MedlinePlus

    Mandibulofacial dysostosis; Treacher Collins-Franceschetti syndrome ... genes, TCOF1 , POLR1C , or POLR1D , can lead to Treacher Collins syndrome. The condition can be passed down through families ( ...

  8. Toxic shock syndrome

    MedlinePlus

    ... of toxic shock syndrome involved women who used tampons during their periods (menstruation). However, today less than half of cases are linked to tampon use. Toxic shock syndrome can also occur with ...

  9. Yellow nail syndrome (image)

    MedlinePlus

    Yellow nail syndrome is characterized by yellow nails that lack a cuticle, grow slowly, and are loose or detached (onycholysis). Yellow nail syndrome is most commonly associated with lung disorders, and ...

  10. Immune Reconstitution Syndrome

    MedlinePlus

    ... RECONSTITUTION SYNDROME? Some people who start antiretroviral therapy (ART) get health problems even though their HIV comes ... may occur in about 20% of people starting ART. HOW WAS THE SYNDROME IDENTIFIED? Several patients developed ...

  11. Polycystic Ovary Syndrome FAQ

    MedlinePlus

    f AQ FREQUENTLY ASKED QUESTIONS FAQ121 GYNECOLOGIC PROBLEMS Polycystic Ovary Syndrome (PCOS) • What are common signs and symptoms of polycystic ovary syndrome (PCOS)? • What causes PCOS? • What is insulin resistance? • ...

  12. Dubin-Johnson syndrome

    MedlinePlus

    ... page: //medlineplus.gov/ency/article/000242.htm Dubin-Johnson syndrome To use the sharing features on this page, please enable JavaScript. Dubin-Johnson syndrome is a disorder passed down through families ( ...

  13. Learning about WAGR Syndrome

    MedlinePlus

    ... a rare genetic condition that can affect both boys and girls. Babies born with WAGR syndrome often have eye ... treatment. Surgery may also be done when a boy with WAGR syndrome has undescended testes. When girls with WAGR syndrome have abnormal ovaries, they have ...

  14. Cardio-renal syndrome

    PubMed Central

    Gnanaraj, Joseph; Radhakrishnan, Jai

    2016-01-01

    Cardio-renal syndrome is a commonly encountered problem in clinical practice. Its pathogenesis is not fully understood. The purpose of this article is to highlight the interaction between the cardiovascular system and the renal system and how their interaction results in the complex syndrome of cardio-renal dysfunction. Additionally, we outline the available therapeutic strategies to manage this complex syndrome. PMID:27635229

  15. Cardio-renal syndrome

    PubMed Central

    Gnanaraj, Joseph; Radhakrishnan, Jai

    2016-01-01

    Cardio-renal syndrome is a commonly encountered problem in clinical practice. Its pathogenesis is not fully understood. The purpose of this article is to highlight the interaction between the cardiovascular system and the renal system and how their interaction results in the complex syndrome of cardio-renal dysfunction. Additionally, we outline the available therapeutic strategies to manage this complex syndrome.

  16. Fragile X syndrome

    MedlinePlus

    Martin-Bell syndrome; Marker X syndrome ... Fragile X syndrome is caused by a change in a gene called FMR1 . A small part of the gene ... is repeated on a fragile area of the X chromosome. The more repeats, the more likely the ...

  17. Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome).

    PubMed

    Bresler, Scott C; Padwa, Bonnie L; Granter, Scott R

    2016-06-01

    Nevoid basal cell carcinoma syndrome, or basal cell nevus syndrome (Gorlin syndrome), is a rare autosomal dominantly inherited disorder that is characterized by development of basal cell carcinomas from a young age. Other distinguishing clinical features are seen in a majority of patients, and include keratocystic odontogenic tumors (formerly odontogenic keratocysts) as well as dyskeratotic palmar and plantar pitting. A range of skeletal and other developmental abnormalities are also often seen. The disorder is caused by defects in hedgehog signaling which result in constitutive pathway activity and tumor cell proliferation. As sporadic basal cell carcinomas also commonly harbor hedgehog pathway aberrations, therapeutic agents targeting key signaling constituents have been developed and tested against advanced sporadically occurring tumors or syndromic disease, leading in 2013 to FDA approval of the first hedgehog pathway-targeted small molecule, vismodegib. The elucidation of the molecular pathogenesis of nevoid basal cell carcinoma syndrome has resulted in further understanding of the most common human malignancy. PMID:26971503

  18. CANDLE syndrome: a recently described autoinflammatory syndrome.

    PubMed

    Tüfekçi, Özlem; Bengoa, ŞebnemYilmaz; Karapinar, Tuba Hilkay; Ataseven, Eda Büke; İrken, Gülersu; Ören, Hale

    2015-05-01

    CANDLE syndrome (chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature) is a recently described autoinflammatory syndrome characterized by early onset, recurrent fever, skin lesions, and multisystemic inflammatory manifestations. Most of the patients have been shown to have mutation in PSMB8 gene. Herein, we report a 2-year-old patient with young onset recurrent fever, atypical facies, widespread skin lesions, generalized lymphadenopathy, hepatosplenomegaly, joint contractures, hypertrglyceridemia, lipodystrophy, and autoimmune hemolytic anemia. Clinical features together with the skin biopsy findings were consistent with the CANDLE syndrome. The pathogenesis and treatment of this syndrome have not been fully understood. Increased awareness of this recently described syndrome may lead to recognition of new cases and better understanding of its pathogenesis which in turn may help for development of an effective treatment. PMID:25036278

  19. Barth syndrome

    PubMed Central

    2013-01-01

    First described in 1983, Barth syndrome (BTHS) is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM), skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3-methylglutaconic acid (3-MGCA). Fewer than 200 living males are known worldwide, but evidence is accumulating that the disorder is substantially under-diagnosed. Clinical features include variable combinations of the following wide spectrum: dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), endocardial fibroelastosis (EFE), left ventricular non-compaction (LVNC), ventricular arrhythmia, sudden cardiac death, prolonged QTc interval, delayed motor milestones, proximal myopathy, lethargy and fatigue, neutropenia (absent to severe; persistent, intermittent or perfectly cyclical), compensatory monocytosis, recurrent bacterial infection, hypoglycaemia, lactic acidosis, growth and pubertal delay, feeding problems, failure to thrive, episodic diarrhoea, characteristic facies, and X-linked family history. Historically regarded as a cardiac disease, BTHS is now considered a multi-system disorder which may be first seen by many different specialists or generalists. Phenotypic breadth and variability present a major challenge to the diagnostician: some children with BTHS have never been neutropenic, whereas others lack increased 3-MGCA and a minority has occult or absent CM. Furthermore, BTHS was first described in 2010 as an unrecognised cause of fetal death. Disabling mutations or deletions of the tafazzin (TAZ) gene, located at Xq28, cause the disorder by reducing remodeling of cardiolipin, a principal phospholipid of the inner mitochondrial membrane. A definitive biochemical test, based on detecting abnormal ratios of different cardiolipin species, was first described in 2008. Key areas of differential diagnosis include metabolic and viral cardiomyopathies, mitochondrial diseases, and many causes of neutropenia and recurrent male miscarriage

  20. [Night-eating syndrome].

    PubMed

    Takagi, S; Saitoh, S; Miki, T; Shimamoto, K

    2001-03-01

    Morning anorexia, evening hyperphagia and insomnia characterized night-eating syndrome. This syndrome is described in 1955 by Stunkard, et al. It occurred during periods of stress and was associated with a poor outcome of efforts at weight reduction. The prevalence of this syndrome was about 26% of severely obese population in US. In Japan, there is few clinical study of this syndrome. It is thought that this syndrome increases in prevalence with increasing adiposity. The behavior study showed that a coherent pattern of behavior was found in subjects with night-eating syndrome. And neuroendocrine study indicated that the leptin, which was produced from the adipocyts, related this syndrome and night eating behavior.

  1. [Epidemiology of Asperger's syndrome].

    PubMed

    Suzuki, Yukiko; Saito, Kazuhiko

    2007-03-01

    Only a little data is available so far on the prevalence of Asperger's syndrome. The prevalence that Fombonne (2003) estimated after considering six European research was 2/10,000. In Ishikawa's study (2006) conducted in Nagoya city, Japan, the prevalence of Asperger's syndrome was 56/10,000. Currently there are not strict diagnostic criteria of Asperger's syndrome and methods of investigation are not consistent in each study. Therefore the prevalence rate for Asperger's syndrome covered very wide range. Although we still don't have a precise prevalence data on Asperger's syndrome, the awareness of this syndrome emerged in these several decades tells us that further research and support for the children of Asperger's syndrome and their family are necessary.

  2. TP53 p.R337H is a conditional cancer-predisposing mutation: further evidence from a homozygous patient

    PubMed Central

    2013-01-01

    Background Adrenocortical carcinomas (ACCs) are among the most common childhood cancers occurring in infants affected with the Li-Fraumeni and Li- Fraumeni-like (LFS/LFL) syndromes, which are caused by dominant germline mutations in the TP53 gene. In Brazil, a particular mutation, occurring in the tetramerisation domain of the gene, p.R337H, is exceedingly common due to a founder effect and is strongly associated with ACC. In this report, we describe the phenotype and long-term clinical follow-up of a female child diagnosed with ACC and homozygous for the TP53 p.R337H founder mutation. Case presentation At age 11 months, the patient was diagnosed with a virilising anaplastic adrenal cortical tumour, which was completely excised without disturbing the adrenal capsule. Family history was consistent with an LFL tumour pattern, and genotyping identified the TP53 p.R337H mutation in both alleles in genomic DNA from lymphocytes and fibroblasts. Haplotype analysis confirmed the occurrence of the mutation in the same founder haplotype previously described in other Brazilian patients. No other germline or somatic TP53 mutations or rearrangements were identified. At age 9 years, the child was asymptomatic and had no evidence of endocrine derangements. Full body and brain magnetic resonance imaging (MRI) failed to detect any suspicious proliferative lesions, and cardiopulmonary exercise testing results were within the normal reference for the child’s age, ruling out a major exercise capacity deficiency. Conclusion This is the first clinical and aerobic functional capacity documentation of a patient who carries two mutant TP53 alleles and no wild-type allele. Our results support the hypothesis that TP53 p.R337H, the most common TP53 mutation ever described in any population, is a conditional mutant. Furthermore, our observations over a long period of clinical follow-up suggest that TP53 p.R337H homozygotes do not have a more severe disease phenotype than do heterozygote

  3. Basal cell nevus syndrome or Gorlin syndrome.

    PubMed

    Thalakoti, Srikanth; Geller, Thomas

    2015-01-01

    Basal cell nevus syndrome (BCNS) or Gorlin syndrome is a rare neurocutaneous syndrome sometimes known as the fifth phacomatosis, inherited in autosomal dominant fashion with complete penetrance and variable expressivity. Gorlin syndrome is characterized by development of multiple basal cell carcinomas (BCCs), jaw cysts, palmar or plantar pits, calcification of falx cerebri, various developmental skeletal abnormalities such as bifid rib, hemi- or bifid vertebra and predisposition to the development of various tumors. BCNS is caused by a mutation in the PTCH1 gene localized to 9q22.3. Its estimated prevalence varies between 1/55600 and 1/256000 with an equal male to female ratio. The medulloblastoma variant seen in Gorlin syndrome patients is of the desmoplastic type, characteristically presenting during the first 3 years of life. Therefore, children with desmoplastic medulloblastoma should be carefully screened for other features of BCNS. Radiation therapy for desmoplastic medulloblastoma should be avoided in BCNS patients as it may induce development of invasive BCCs and other tumors in the skin area exposed to radiation. This syndrome is a multisystem disorder so involvement of multiple specialists with a multimodal approach to detect and treat various manifestations at early stages will reduce the long-term sequelae and severity of the condition. Life expectancy is not significantly altered but morbidity from complications and cosmetic scarring can be substantial. PMID:26564075

  4. Metabolic Syndrome and Migraine

    PubMed Central

    Sachdev, Amit; Marmura, Michael J.

    2012-01-01

    Migraine and metabolic syndrome are highly prevalent and costly conditions. The two conditions coexist, but it is unclear what relationship may exist between the two processes. Metabolic syndrome involves a number of findings, including insulin resistance, systemic hypertension, obesity, a proinflammatory state, and a prothrombotic state. Only one study addresses migraine in metabolic syndrome, finding significant differences in the presentation of metabolic syndrome in migraineurs. However, controversy exists regarding the contribution of each individual risk factor to migraine pathogenesis and prevalence. It is unclear what treatment implications, if any, exist as a result of the concomitant diagnosis of migraine and metabolic syndrome. The cornerstone of migraine and metabolic syndrome treatments is prevention, relying heavily on diet modification, sleep hygiene, medication use, and exercise. PMID:23181051

  5. Treatment of West syndrome.

    PubMed

    Sakakihara, Yoichi

    2011-03-01

    West syndrome is one of the most refractory epileptic syndromes in infancy, and many researchers have made great effort to find optimal treatment modalities for this syndrome. In this review, previous literature on optimal treatments of West syndrome and its refractory nature were briefly presented, followed by an introduction of recent publication of expert opinions from the US and Europe. An Asian expert opinion generated by a short questionnaire survey was then presented. It was shown that medically proven optimal treatment of West syndrome is not always the practical treatment of choice in Asian countries. Cost and geographical regions should also be taken into account in making practical choices for treatment of West syndrome. PMID:21196092

  6. First Trimester Down Syndrome Screen

    MedlinePlus

    ... Home Visit Global Sites Search Help? First Trimester Down Syndrome Screen Share this page: Was this page helpful? ... is carrying has a chromosomal abnormality such as Down syndrome (trisomy 21) or Edwards syndrome (trisomy 18) . The ...

  7. Genetics Home Reference: Proteus syndrome

    MedlinePlus

    ... Proteus syndrome Additional NIH Resources (3 links) National Human Genome Research Institute: NIH Researchers Identify Gene Variant in Proteus Syndrome (July 27, 2011) National Human Genome Research Institute: Proteus Syndrome: Background Information National Human ...

  8. Genetics Home Reference: WAGR syndrome

    MedlinePlus

    ... signs and symptoms of WAGR syndrome can include childhood-onset obesity, inflammation of the pancreas (pancreatitis), and kidney failure. When WAGR syndrome includes childhood-onset obesity, it is often referred to as WAGRO syndrome. ...

  9. Genetics Home Reference: Jacobsen syndrome

    MedlinePlus

    ... 11 , Jacobsen syndrome is also known as 11q terminal deletion disorder. The signs and symptoms of Jacobsen ... disorder 11q deletion syndrome 11q- deletion syndrome 11q terminal deletion disorder 11q23 deletion disorder Jacobsen thrombocytopenia Related ...

  10. Genetics Home Reference: Silver syndrome

    MedlinePlus

    ... Me Understand Genetics Home Health Conditions Silver syndrome Silver syndrome Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Silver syndrome belongs to a group of genetic disorders ...

  11. Genetics Home Reference: Costello syndrome

    MedlinePlus

    ... Y; Costello and CFC syndrome study group in Japan. Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological survey. Am J ...

  12. Genetics Home Reference: Arts syndrome

    MedlinePlus

    ... Me Understand Genetics Home Health Conditions Arts syndrome Arts syndrome Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Arts syndrome is a disorder that causes serious neurological ...

  13. Economy class syndrome.

    PubMed

    Sahiar, F; Mohler, S R

    1994-10-01

    A recent case of the "Economy Class Syndrome" is presented, emphasizing the syndrome's aeromedical implications and prevention. The clinical presentation, current modes of prophylaxis and therapy, plus a brief but pertinent historical background, are described. The syndrome is potentially fatal, and the authors stress that the condition needs to be recognized as a preventable hazard of air travel. Adoption of the preventive measures described herein can assist in promoting healthy air travel.

  14. Paraneoplastic neurological syndromes

    PubMed Central

    Leypoldt, F; Wandinger, K-P

    2014-01-01

    Paraneoplastic neurological syndromes are immune-mediated erroneous attacks on the central or peripheral nervous systems, or both, directed originally against the tumour itself. They have been known for more than 40 years, but recently the discovery of new subgroups of paraneoplastic encephalitis syndromes with a remarkably good response to immune therapy has ignited new clinical and scientific interest. Knowledge of these subgroups and their associated autoantibodies is important in therapeutic decision-making. However, the abundance of new autoantibodies and syndromes can be confusing. This review paper summarizes current knowledge and new developments in the field of paraneoplastic neurological syndromes, their classification, pathophysiology and treatment. PMID:23937626

  15. Laugier-Hunziker syndrome.

    PubMed

    Nayak, Ramakant S; Kotrashetti, Vijayalakshmi S; Hosmani, Jagadish V

    2012-05-01

    Laugier-Hunziker syndrome is a rare acquired disorder characterized by diffuse hyperpigmentation of the oral mucosa and longitudinal melanonychia in adults. They appear as macular lesions less than 5 mm in diameter. Laugier-Hunziker syndrome is considered to be a benign disease with no systemic manifestation or malignant potential. Therefore, it is important to rule out other mucocutaneous pigmentary disorders that do require medical management. Prompt clinical recognition also averts the need for excessive and invasive procedures and treatments. In India, the reported cases of this syndrome are very few. We provide a review of literature on Laugier-Hunziker syndrome with its differential diagnosis.

  16. Cerebral salt wasting syndrome.

    PubMed

    Uygun, M A; Ozkal, E; Acar, O; Erongun, U

    1996-01-01

    Hyponatremia following acute or chronic central nervous system injury which is due to excessive Na+ loss in the urine without an increase in the body fluid, has been described as Cerebral Salt Wasting Syndrome (CSWS). This syndrome is often confused with dilutional hyponatremia secondary to inappropriate ADH secretion. Accurate diagnosis and management are mandatory for to improve the course of the disease. In this study a patient with CSW Syndrome is presented and the treatment and diagnosis of this syndrome are discussed in view of the literature.

  17. [Bilateral operculum syndrome].

    PubMed

    Lerman-Sagie, T; Porat-Alkabetz, E; Meir, J J; Harel, S

    1996-09-01

    The bilateral operculum syndrome, is a unique developmental syndrome. It is characterized by spastic paralysis of the muscles of the face, pharynx, and of mastication, as well as by epilepsy and mental retardation. Imaging studies show bilateral, structural abnormalities in the frontal, perisylvian region consistent with polymicrogyria. These children are usually diagnosed as suffering from cerebral palsy, but in the bilateral operculum syndrome, intelligence is relatively preserved despite the severe motor involvement. Misdiagnosis may lead to improper estimation of rehabilitation potential preventing appropriate therapy, especially in the field of alternative communication. We present a 3-year-old boy, apparently the first case of this syndrome to be described in Israel. PMID:8940497

  18. Cushing's syndrome in pregnancy.

    PubMed

    Nassi, Rossella; Ladu, Cristina; Vezzosi, Chiara; Mannelli, Massimo

    2015-02-01

    Cushing's syndrome is a rare condition in the general population and is even less common during pregnancy with only a few cases reported in literature. The diagnosis of Cushing's syndrome may be difficult during pregnancy because the typical features of the disorder and pregnancy may overlap. However, Cushing's syndrome results in increased fetal and maternal complications, and diagnosis and treatment are critical. This report describes a case of 26-year-old female at the 19th week of pregnancy with symptoms and signs of hypercortisolism, where ACTH-independent Cushing's syndrome was diagnosed and treated by robotic laparoscopic adrenalectomy at the 21th week of gestation.

  19. Transition in Turner's syndrome.

    PubMed

    Saenger, Paul

    2004-06-01

    Management of the chromosomal condition Turner's syndrome requires consistent medical care, especially during the time when affected girls transition from childhood into adulthood. The medical problems that first develop during childhood of a patient with Turner's syndrome such as congenital heart disease, hearing loss, skeletal problems and dental and ophthalmological abnormalities, should be followed into adulthood. Providing the necessary continuum of care will require that medical centers develop teams with the appropriate expertise in treatment of Turner's syndrome. Now more than ever patients with Turner's syndrome have the capability of achieving their full potential, but it requires a multidisciplinary approach toward care throughout their lifetime.

  20. Capgras' syndrome with organic disorders.

    PubMed Central

    Collins, M. N.; Hawthorne, M. E.; Gribbin, N.; Jacobson, R.

    1990-01-01

    Capgras' syndrome, one form of the delusional misidentification syndromes, is described. Three patients with the syndrome are reported. The first had a right cerebral infarction, the second had nephrotic syndrome secondary to severe pre-eclampsia in the puerperium, and the third had uncontrolled diabetes mellitus with dementia. Evidence is reviewed regarding an organic aetiology for Capgras' syndrome. We conclude that, when the syndrome is present, a thorough search for organic disorder should be made. PMID:2084656

  1. Macrocytosis in Down Syndrome.

    ERIC Educational Resources Information Center

    Wachtel, Tom J.; Pueschel, Siegfried M.

    1991-01-01

    The study, with 61 Down Syndrome (trisomy 21) adult subjects, found that macrocytosis in the absence of anemia was virtually universal and erythrocyte survival half-time was shorter than normal. Findings suggest that erythrocytes have a younger mean age in persons with Down Syndrome, possibly indicating an accelerated aging process of red blood…

  2. Munchausen Syndrome by Proxy

    PubMed Central

    Yaacob, B.M.J

    1999-01-01

    Munchausen syndrome by proxy is a rare disorder in child psychiatric practice. A case of Munchausen syndrome by proxy that was managed in the Child Psychiatric clinic, Universiti Sains Malaysia Hospital is reported. Factors that suggest the diagnosis are discussed. Multidisciplinary approach to the management of such cases is warranted. PMID:22589687

  3. Cushing's Syndrome in Children

    MedlinePlus

    Cushing’s Syndrome in Children by Meg Keil, MS, CRNP How is Cushing’s syndrome (CS) in children different than in adults? · CS in children is rare. An estimated ... child or adolescent during this period. Editor’s Note: Meg Keil,MS, CRNP is a nurse practitioner at ...

  4. Myelopathy in Marfan's syndrome

    PubMed Central

    Newman, P. K.; Tilley, P. J. B.

    1979-01-01

    A patient with Marfan's syndrome and a myelopathy is reported, and the association of multiple spinal arachnoid cysts noted. It is proposed that the basic connective tissue defect in Marfan's syndrome may predispose to the formation of arachnoid diverticuli and that in this case spinal cord damage was the sequel. Images PMID:422966

  5. Second-Impact Syndrome

    ERIC Educational Resources Information Center

    Cobb, Sarah; Battin, Barbara

    2004-01-01

    Sports-related injuries are among the more common causes of injury in adolescents that can result in concussion and its sequelae, postconcussion syndrome and second-impact syndrome (SIS). Students who experience multiple brain injuries within a short period of time (hours, days, or weeks) may suffer catastrophic or fatal reactions related to SIS.…

  6. Peripheral nerve hyperexcitability syndromes.

    PubMed

    Küçükali, Cem Ismail; Kürtüncü, Murat; Akçay, Halil İbrahim; Tüzün, Erdem; Öge, Ali Emre

    2015-01-01

    Peripheral nerve hyperexcitability (PNH) syndromes can be subclassified as primary and secondary. The main primary PNH syndromes are neuromyotonia, cramp-fasciculation syndrome (CFS), and Morvan's syndrome, which cause widespread symptoms and signs without the association of an evident peripheral nerve disease. Their major symptoms are muscle twitching and stiffness, which differ only in severity between neuromyotonia and CFS. Cramps, pseudomyotonia, hyperhidrosis, and some other autonomic abnormalities, as well as mild positive sensory phenomena, can be seen in several patients. Symptoms reflecting the involvement of the central nervous system occur in Morvan's syndrome. Secondary PNH syndromes are generally seen in patients with focal or diffuse diseases affecting the peripheral nervous system. The PNH-related symptoms and signs are generally found incidentally during clinical or electrodiagnostic examinations. The electrophysiological findings that are very useful in the diagnosis of PNH are myokymic and neuromyotonic discharges in needle electromyography along with some additional indicators of increased nerve fiber excitability. Based on clinicopathological and etiological associations, PNH syndromes can also be classified as immune mediated, genetic, and those caused by other miscellaneous factors. There has been an increasing awareness on the role of voltage-gated potassium channel complex autoimmunity in primary PNH pathogenesis. Then again, a long list of toxic compounds and genetic factors has also been implicated in development of PNH. The management of primary PNH syndromes comprises symptomatic treatment with anticonvulsant drugs, immune modulation if necessary, and treatment of possible associated dysimmune and/or malignant conditions. PMID:25719304

  7. Klinefelter Syndrome (For Teens)

    MedlinePlus

    ... Is It? Klinefelter syndrome can cause problems with learning and sexual development in guys. It's a genetic condition (meaning a person is born with it). Klinefelter syndrome only affects males. It happens because of a difference deep inside the body's cells, in microscopic strings of ...

  8. Eosinophilic fasciitis (Shulman syndrome).

    PubMed

    Carneiro, Sueli; Brotas, Arles; Lamy, Fabrício; Lisboa, Flávia; Lago, Eduardo; Azulay, David; Cuzzi, Tulia; Ramos-e-Silva, Marcia

    2005-04-01

    We present a case of eosinophilic fasciitis, or Shulman syndrome, in a 35-year-old man and discuss its clinical and histopathologic aspects, as well as its relationship to scleroderma. Although controversial, the tendency is to set Shulman syndrome apart from all other sclerodermiform states. PMID:15916220

  9. Stiff Person Syndrome.

    PubMed

    Saigal, Renu; Goyal, Laxmikant; Yadav, Rn; Agrawal, Abhishek; Mital, Pradeep; Patel, Bhavesh

    2015-08-01

    Stiff-person syndrome or Moersch-Woltmann is a very rare and disabling neurologic disorder characterized by muscle rigidity and episodic spasms involving axial and limb musculature. It is an autoimmune disorder resulting in a malfunction of aminobutyric acid mediated inhibitory networks in the central nervous system. We describe a patient of stiff person syndrome. PMID:27604442

  10. Plummer-Vinson syndrome.

    PubMed

    Novacek, Gottfried

    2006-09-15

    Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs. Exact data about epidemiology of the syndrome are not available; the syndrome is extremely rare. Most of the patients are white middle-aged women, in the fourth to seventh decade of life but the syndrome has also been described in children and adolescents. The dysphagia is usually painless and intermittent or progressive over years, limited to solids and sometimes associated with weight loss. Symptoms resulting from anemia (weakness, pallor, fatigue, tachycardia) may dominate the clinical picture. Additional features are glossitis, angular cheilitis and koilonychia. Enlargement of the spleen and thyroid may also be observed. One of the most important clinical aspects of Plummer-Vinson syndrome is the association with upper alimentary tract cancers. Etiopathogenesis of Plummer-Vinson syndrome is unknown. The most important possible etiological factor is iron deficiency. Other possible factors include malnutrition, genetic predisposition or autoimmune processes. Plummer-Vinson syndrome can be treated effectively with iron supplementation and mechanical dilation. In case of significant obstruction of the esophageal lumen by esophageal web and persistent dysphagia despite iron supplementation, rupture and dilation of the web are necessary. Since Plummer-Vinson syndrome is associated with an increased risk of squamous cell carcinoma of the pharynx and the esophagus, the patients should be followed closely.

  11. Plummer-Vinson syndrome

    PubMed Central

    Novacek, Gottfried

    2006-01-01

    Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs. Exact data about epidemiology of the syndrome are not available; the syndrome is extremely rare. Most of the patients are white middle-aged women, in the fourth to seventh decade of life but the syndrome has also been described in children and adolescents. The dysphagia is usually painless and intermittent or progressive over years, limited to solids and sometimes associated with weight loss. Symptoms resulting from anemia (weakness, pallor, fatigue, tachycardia) may dominate the clinical picture. Additional features are glossitis, angular cheilitis and koilonychia. Enlargement of the spleen and thyroid may also be observed. One of the most important clinical aspects of Plummer-Vinson syndrome is the association with upper alimentary tract cancers. Etiopathogenesis of Plummer-Vinson syndrome is unknown. The most important possible etiological factor is iron deficiency. Other possible factors include malnutrition, genetic predisposition or autoimmune processes. Plummer-Vinson syndrome can be treated effectively with iron supplementation and mechanical dilation. In case of significant obstruction of the esophageal lumen by esophageal web and persistent dysphagia despite iron supplementation, rupture and dilation of the web are necessary. Since Plummer-Vinson syndrome is associated with an increased risk of squamous cell carcinoma of the pharynx and the esophagus, the patients should be followed closely. PMID:16978405

  12. Epidemiology of Down Syndrome

    ERIC Educational Resources Information Center

    Sherman, Stephanie L.; Allen, Emily G.; Bean, Lora H.; Freeman, Sallie B.

    2007-01-01

    Down syndrome (DS) is the most commonly identified genetic form of mental retardation and the leading cause of specific birth defects and medical conditions. Traditional epidemiological studies to determine the prevalence, cause, and clinical significance of the syndrome have been conducted over the last 100 years. DS has been estimated to occur…

  13. Acute nephritic syndrome

    MedlinePlus

    ... and adolescents include: Hemolytic uremic syndrome Henoch-Schönlein purpura IgA nephropathy Post-streptococcal glomerulonephritis Common causes in ... Heart failure - overview Hemolytic-uremic syndrome Henoch-Schönlein purpura Hepatitis High blood pressure Hypersensitivity vasculitis IgA nephropathy ...

  14. Os trigonum syndrome.

    PubMed

    Figueroa, R T; Dozier, T; Kalmar, J

    2001-08-01

    Os trigonum syndrome refers to a constellation of findings that can result in significant posterior or lateral ankle pain. The diagnosis may be very challenging for the clinician; nonetheless, modern imaging techniques can reliably aid in the diagnosis and in determining the extent of injury. This article explores the anatomy, pathomechanics, imaging findings, and clinical presentation of os trigonum syndrome.

  15. [Schizophrenia or Asperger syndrome?].

    PubMed

    Da Fonseca, David; Viellard, Marine; Fakra, Eric; Bastard-Rosset, Delphine; Deruelle, Christine; Poinso, François

    2008-09-01

    Patients with Asperger syndrome are often diagnosed late or are wrongly considered to have schizophrenia. Misdiagnosing Asperger syndrome creates serious problems by preventing effective therapy. Several clinical signs described in Asperger syndrome could also be considered as clinical signs of schizophrenia, including impaired social interactions, disabilities in communication, restricted interests, and delusions of persecution. A number of clinical features may facilitate the differential diagnosis: younger age at onset, family history of pervasive developmental disorder, recurring conversations on the same topic, pragmatic aspects of language use, oddities of intonation and pitch, lack of imagination, and incomprehension of social rules are more characteristic of Asperger syndrome. Accurate distinction between Asperger syndrome and schizophrenia would make it possible to offer more treatment appropriate to the patient's functioning.

  16. Heterogeneity in Waardenburg syndrome.

    PubMed Central

    Hageman, M J; Delleman, J W

    1977-01-01

    Heterogeneity of Waardenburg syndrome is demonstrated in a review of 1,285 patients from the literature and 34 previously unreported patients in five families in the Netherlands. The syndrome seems to consist of two genetically distinct entities that can be differentiated clinically: type I, Waardenburg syndrome with dystopia canthorum; and type II, Waardenburg syndrome without dystopia canthorum. Both types have an autosomal dominant mode of inheritance. The incidence of bilateral deafness in the two types of the syndrome was found in one-fourth with type I and about half of the patients with type II. This difference has important consequences for genetic counseling. Images Fig. 7 Fig. 8 Fig. 9 PMID:331943

  17. The skinache syndrome.

    PubMed Central

    Bassøe, C F

    1995-01-01

    Chronic pain of unknown aetiology, and characterized by cutaneous trigger points, has been coined the skinache syndrome. The treatment of the skinache syndrome was evaluated in 94 patients by two independent methods 2 years after treatment. After one subcutaneous injection of lidocaine 68% of the patients were cured. The pain recurred in 27 patients having suffered for an average of 2 years. Surgical removal of the cutaneous trigger points cured 77% of the latter patients. The odds ratio of success of surgical treatment versus all other treatments combined was 101.3. The skinache syndrome requires a precise clinical investigation. Even when the origin of the pain in tendons, muscle and adipose tissue is excluded, the skinache syndrome remains a common, debilitating disorder. In contrast to fibromyalgia, the skinache syndrome has a simple and effective cure. PMID:8537946

  18. Thoracic outlet syndrome.

    PubMed

    Kuhn, John E; Lebus V, George F; Bible, Jesse E

    2015-04-01

    Thoracic outlet syndrome is a well-described disorder caused by thoracic outlet compression of the brachial plexus and/or the subclavian vessels. Neurogenic thoracic outlet syndrome is the most common manifestation, presenting with pain, numbness, tingling, weakness, and vasomotor changes of the upper extremity. Vascular complications of thoracic outlet syndrome are uncommon and include thromboembolic phenomena and swelling. The clinical presentation is highly variable, and no reproducible study exists to confirm the diagnosis; instead, the diagnosis is based on a physician's judgment after a meticulous history and physical examination. Both nonsurgical and surgical treatment methods are available for thoracic outlet syndrome. Whereas nonsurgical management appears to be effective in some persons, surgical treatment has been shown to provide predictable long-term cure rates for carefully selected patients. In addition, physicians who do not regularly treat patients with thoracic outlet syndrome may not have an accurate view of this disorder, its treatment, or the possible success rate of treatment. PMID:25808686

  19. Thoracic outlet syndrome.

    PubMed

    Kuhn, John E; Lebus V, George F; Bible, Jesse E

    2015-04-01

    Thoracic outlet syndrome is a well-described disorder caused by thoracic outlet compression of the brachial plexus and/or the subclavian vessels. Neurogenic thoracic outlet syndrome is the most common manifestation, presenting with pain, numbness, tingling, weakness, and vasomotor changes of the upper extremity. Vascular complications of thoracic outlet syndrome are uncommon and include thromboembolic phenomena and swelling. The clinical presentation is highly variable, and no reproducible study exists to confirm the diagnosis; instead, the diagnosis is based on a physician's judgment after a meticulous history and physical examination. Both nonsurgical and surgical treatment methods are available for thoracic outlet syndrome. Whereas nonsurgical management appears to be effective in some persons, surgical treatment has been shown to provide predictable long-term cure rates for carefully selected patients. In addition, physicians who do not regularly treat patients with thoracic outlet syndrome may not have an accurate view of this disorder, its treatment, or the possible success rate of treatment.

  20. [Thoracic outlet syndrome].

    PubMed

    Rodriguez, José Maria

    2005-01-01

    The thoracic outlet syndrome is a polymorphic clinical entity, whose nature is essentially anatomic, caused by the chronic compression of the neurovascular structures that are originated in the chest or neck and course to the upper extremity. According to the most affected structure, they can be classified as neurologic, arterial or venous syndromes, that may cause discomfort, pain and disability, sometimes definite and irreparable. Thoracic outlet syndrome are often difficult to recognize in clinical practice and it is important to emphasize some peculiar symptoms or signs that each syndrome may present, through specific maneuvers or adequate complementary studies. The great majority of patients may improve with physical therapy or postural correction, and a minority is indicated for surgical therapy. The main features of the diverse thoracic outlet syndromes, their clinical presentation, diagnosis, conventional and surgical management, surgical access, complications and prognosis are described and discussed in this paper dedicated to a complete review of the entity. PMID:16234911

  1. [The refeeding syndrome].

    PubMed

    Lambers, Wietske M; Kraaijenbrink, Bastiaan; Siegert, Carl E H

    2015-01-01

    The refeeding syndrome may occur during reintroduction of carbohydrates in malnourished patients. This syndrome is characterized by reduced plasma electrolyte levels, hypophosphataemia being most prevalent. The symptoms can vary from minor symptoms to severe neurological or cardiac symptoms. The pathophysiological mechanism comprises an increase in insulin levels, resulting in shifts of phosphate, potassium and magnesium into the intracellular environment, as well as fluid retention and relative deficiency of vitamin B1. There is growing interest in the screening and treatment of patients with malnutrition, due to which the incidence of refeeding syndrome is probably increasing. Currently, there is no single definition of this syndrome and therefore there is no solid scientific basis for screening and treatment. In this article we describe the rationale for screening and additional laboratory investigations. A prospective, controlled trial is important to define the clinical relevance of the refeeding syndrome and optimize its treatment.

  2. Beckwith-Wiedemann syndrome with overlapping Perlman syndrome manifestation.

    PubMed

    Ferianec, Vladimír; Bartova, Michaela

    2014-10-01

    Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome known as exomphalos-macroglossia - gigantism syndrome. Prognosis is good, prenatal diagnosis is important for pregnancy management but might be difficult due to clinical overlap with other syndromes. Perlman syndrome is an overgrowth syndrome with high perinatal mortality, most frequent antenatal findings include polyhydramnios, macrosomia, visceromegaly, nephromegaly and foetal ascites. Authors present a case of prenatally diagnosed BWS with severe ascites as first antenatal finding and lethal course, signs more typical of Perlman syndrome. This combination of clinical signs has not been published yet and may contribute to specification of possible prenatal manifestation of BWS. PMID:24215131

  3. Syndrome in question: Gorlin-Goltz syndrome*

    PubMed Central

    Ribeiro, Pauline Lyrio; de Souza Filho, João Basílio; de Abreu, Karina Demoner; Brezinscki, Marisa Simon; Pignaton, Christine Chambo

    2016-01-01

    The Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is an uncommon disorder caused by a mutation in Patched, tumor suppressor gene. It is mainly characterized by numerous early onset basal cell carcinomas, odontogenic cysts of jaw and skeletal abnormalities. Due to the wide clinical spectrum, treatment and management of its modalities are not standardized and should be individualized and monitored by a multidisciplinary team. We report a typical case in a 30-year-old man with multiple basal cell carcinomas, keratotic pits of palmar creases and bifid ribs, with a history of several corrective surgeries for keratocystic odontogenic tumors, among other lesions characteristic of the syndrome. PMID:27579759

  4. Genetics Home Reference: Gorlin syndrome

    MedlinePlus

    ... Syndrome Life Support Network Gorlin Syndrome Group National Organization for Rare Disorders (NORD) GeneReviews (1 link) Nevoid Basal Cell Carcinoma Syndrome Genetic Testing Registry (1 link) Gorlin syndrome Scientific articles on PubMed (1 link) PubMed OMIM (1 link) ...

  5. The Source for Syndromes 2.

    ERIC Educational Resources Information Center

    Richard, Gail J.; Hoge, Debra Reichert

    Designed for practicing speech-language pathologists, this book discusses different lesser-known syndrome disabilities, pertinent speech-language characteristics, and goals and strategies to begin intervention efforts at a preschool level. Chapters address: (1) Apert syndrome; (2) Beckwith-Wiedemann syndrome; (3) CHARGE syndrome; (4) Cri-du-Chat…

  6. Cannabinoid Hyperemesis Syndrome

    PubMed Central

    Galli, Jonathan A.; Sawaya, Ronald Andari; Friedenberg, Frank K.

    2013-01-01

    Coinciding with the increasing rates of cannabis abuse has been the recognition of a new clinical condition known as Cannabinoid Hyperemesis Syndrome. Cannabinoid Hyperemesis Syndrome is characterized by chronic cannabis use, cyclic episodes of nausea and vomiting, and frequent hot bathing. Cannabinoid Hyperemesis Syndrome occurs by an unknown mechanism. Despite the well-established anti-emetic properties of marijuana, there is increasing evidence of its paradoxical effects on the gastrointestinal tract and CNS. Tetrahydrocannabinol, cannabidiol, and cannabigerol are three cannabinoids found in the cannabis plant with opposing effects on the emesis response. The clinical course of Cannabinoid Hyperemesis Syndrome may be divided into three phases: prodromal, hyperemetic, and recovery phase. The hyperemetic phase usually ceases within 48 hours, and treatment involves supportive therapy with fluid resuscitation and anti-emetic medications. Patients often demonstrate the learned behavior of frequent hot bathing, which produces temporary cessation of nausea, vomiting, and abdominal pain. The broad differential diagnosis of nausea and vomiting often leads to delay in the diagnosis of Cannabinoid Hyperemesis Syndrome. Cyclic Vomiting Syndrome shares several similarities with CHS and the two conditions are often confused. Knowledge of the epidemiology, pathophysiology, and natural course of Cannabinoid Hyperemesis Syndrome is limited and requires further investigation. PMID:22150623

  7. UV-sensitive syndrome.

    PubMed

    Spivak, Graciela

    2005-09-01

    UV-sensitive syndrome (UV(S)S) is a human DNA repair-deficiency disorder with mild clinical manifestations. In contrast to other disorders with photosensitivity, no neurological or developmental abnormalities and no predisposition to cancer have been reported. The cellular and biochemical responses of UV(S)S and Cockayne syndrome (CS) cells to UV light are indistinguishable, and result from defective transcription-coupled repair of photoproducts in expressed genes [G. Spivak, T. Itoh, T. Matsunaga, O. Nikaido, P. Hanawalt, M. Yamaizumi, Ultra violet-sensitive syndrome cells are defective in transcription-coupled repair of cyclobutane pyrimidine dimers, DNA Repair, 1, 2002, 629-643]. The severe neurological and developmental deficiency characteristic of CS may arise from unresolved blockage of transcription at oxidative DNA lesions, which could result in excessive cell death and/or attenuated transcription. We have proposed that individuals with UV(S)S develop normally because they are proficient in repair of oxidative base damage or in transcriptional bypass of these lesions; consistent with this hypothesis, CS-B cells, but not UV(S)S cells, are deficient in host cell reactivation of plasmids containing oxidative base lesions [G. Spivak, P. Hanawalt, Host cell reactivation of plasmids containing oxidative DNA lesions is defective in Cockayne syndrome but normal in UV-sensitive syndrome, 2005, submitted for publication]. In this review, I will summarize the current understanding of the UV-sensitive syndrome and compare it with the Cockayne syndrome. PMID:15916784

  8. [Cramp-fasciculation syndrome].

    PubMed

    Lagueny, A

    2005-12-01

    The cramp-fasciculation syndrome is a rare clinical entity in comparison with the frequency of cramps and isolated fasciculations in the general population. It is recognized as a benign syndrome without weakness and atrophy, however a few reports suggest that it may precede the occurrence of a motor neuron disease. Most often, the cramp-fasciculation syndrome is idiopathic and may be a component of a hyperexcitable peripheral nerve syndrome including other activities such as myokymia and neuromyotonia where antibodies to voltage-gated potassium channels (VGKCs) appear to be one of the effector mechanisms. The most complete form of this hyperexcitable peripheral nerve syndrome is Isaacs' syndrome. The central nervous system is also concerned with anti-VGKC antibodies found in Morvan's disease and limbic encephalitis which is often a paraneoplastic condition. These findings extend the spectrum of the anti-VGKC syndrome that may be associated with other auto-immune diseases, chiefly myasthenia gravis with thymoma. Carbamazepine and phenytoin cause reduction of the clinical and electrophysiological signs of the nerve hyperexcitability, and plasmapheresis and (or) immunosuppressors are useful when an auto-immune origin is considered. PMID:16340924

  9. Recurrent Miller Fisher syndrome.

    PubMed

    Madhavan, S; Geetha; Bhargavan, P V

    2004-07-01

    Miller Fisher syndrome (MFS) is a variant of Guillan Barre syndrome characterized by the triad of ophthalmoplegia, ataxia and areflexia. Recurrences are exceptional with Miller Fisher syndrome. We are reporting a case with two episodes of MFS within two years. Initially he presented with partial ophthalmoplegia, ataxia. Second episode was characterized by full-blown presentation characterized by ataxia, areflexia and ophthalmoplegia. CSF analysis was typical during both episodes. Nerve conduction velocity study was fairly within normal limits. MRI of brain was within normal limits. He responded to symptomatic measures initially, then to steroids in the second episode. We are reporting the case due to its rarity.

  10. Joint hypermobility syndrome.

    PubMed

    Fikree, Asma; Aziz, Qasim; Grahame, Rodney

    2013-05-01

    Although perceived as a rare condition, joint hypermobility syndrome is common. Its prevalence in rheumatology clinics is extremely high. Early estimates suggest that it may be the most common of all rheumatologic conditions. The problem lies in the general lack of awareness of the syndrome, its means of recognition, and the resultant failure to diagnose it correctly when present. It is a worldwide problem. This article provides an overview of hypermobility and hypermobility syndrome, stressing its multisystemic nature and the negative impact that it may have on quality of life, with particular reference to gastrointestinal involvement. PMID:23597972

  11. Iliotibial band friction syndrome.

    PubMed

    Lavine, Ronald

    2010-07-20

    Published articles on iliotibial band friction syndrome have been reviewed. These articles cover the epidemiology, etiology, anatomy, pathology, prevention, and treatment of the condition. This article describes (1) the various etiological models that have been proposed to explain iliotibial band friction syndrome; (2) some of the imaging methods, research studies, and clinical experiences that support or call into question these various models; (3) commonly proposed treatment methods for iliotibial band friction syndrome; and (4) the rationale behind these methods and the clinical outcome studies that support their efficacy.

  12. Williams syndrome and happiness.

    PubMed

    Levine, K; Wharton, R

    2000-09-01

    Williams syndrome is a genetic disorder resulting in a variety of medical and developmental features, one of which is a frequent outward presentation of substantial happiness. In this paper we describe the unique expression of happiness in people with Williams syndrome, with several anecdotes and a frame by frame conversational analysis. We then discuss this happiness in the context of other dimensions of the impact of Williams syndrome, especially anxiety. We conclude with a discussion of the role of genetics in emotions. PMID:11008844

  13. Ifosfamide induced Fanconi syndrome

    PubMed Central

    Buttemer, Samantha; Pai, Mohan; Lau, Keith K

    2011-01-01

    Ifosfamide (IFA) is a powerful chemotherapeutic drug that is active against a variety of paediatric malignancies. However, renal toxicities such as haemorrhagic cystitis and Fanconi syndrome are major hazards that hinder its use in clinical practice. The authors present a case of a patient treated for Wilms’ tumour with IFA who developed rickets with Fanconi syndrome. Patients undergoing IFA treatment must be carefully monitored for the development of iatrogenic complications. Recent studies have improved our understanding of the underlying pathomechanism of IFA induced Fanconi syndrome, and selective renal protection against during chemotherapy with IFA may be possible soon. PMID:22669992

  14. Anton's Syndrome and Eugenics

    PubMed Central

    Frahm-Falkenberg, Siska

    2011-01-01

    Anton's syndrome is arguably the most striking form of anosognosia. Patients with this syndrome behave as if they can see despite their obvious blindness. Although best known for his description of asomatognosia and visual anosognosia, Gabriel Anton (1858-1933) made other significant contributions to the clinical neurosciences, including pioneering work in neurosurgery, neuropsychology, and child psychiatry. However, it has not been recognized in the English literature that Anton was also a dedicated advocate of eugenics and racial hygiene. This paper provides a case of Anton's syndrome and puts the works of Gabriel Anton into their historic context. PMID:21779298

  15. [Plummer-Vinson syndrome].

    PubMed

    Munyó, J C; Leborgne, F; Regules, J E

    1978-01-01

    The Plummer-Vinson syndrome is very uncommon in Latin America. Four cases showing the clinical-radiological and hematological features of this syndrome are described. Three cases were treated with esophageal dilatation and Ferro therapy. The radiological evaluation may show deformities in the faringo-esophageal lumen other than the esophageal webs, such as hypertrophy of the cricopharingeal sphincter and of the retrocricoid venous plexus as well as the demonstration of esophageal webs in the patients without symptoms or signs of the Plummer Vinson Syndrome.

  16. Iliotibial band friction syndrome

    PubMed Central

    2010-01-01

    Published articles on iliotibial band friction syndrome have been reviewed. These articles cover the epidemiology, etiology, anatomy, pathology, prevention, and treatment of the condition. This article describes (1) the various etiological models that have been proposed to explain iliotibial band friction syndrome; (2) some of the imaging methods, research studies, and clinical experiences that support or call into question these various models; (3) commonly proposed treatment methods for iliotibial band friction syndrome; and (4) the rationale behind these methods and the clinical outcome studies that support their efficacy. PMID:21063495

  17. [Refeeding syndrome: practical issues].

    PubMed

    Buzzi, M; Limonta, A; Pichard, C; Stirnemann, J

    2015-10-14

    The refeeding syndrome is frequent and potentially deadly, still it is underdiagnosed. It is defined by clinical and biological manifestations that are seen upon refeeding of malnourished patients. It is the consequence of the transition from catabolism to anabolism. Ions intracellular shift caused by insulin and B1 vitamin deficiency are fundamental in the development of this syndrome. Riskconditions are well summarized by the NICE criteria. To avoid refeeding syndrome, it is fundamental to find and correct any electrolytic deficiency and to give thiamine before starting a slow and progressive oral, enteral or parenteral refeeding.

  18. [Sweet syndrome revealing leukemia].

    PubMed

    Elleuch, E; Hammami, B; Smaoui, F; Maaloul, I; Turki, H; Elloumi, M; Ben Jemaa, M

    2011-09-01

    Sweet syndrome is a neutrophilic dermatosis that can lead to various inflammatory and neoplastic pathologies. We report a case of Sweet syndrome revealing acute leukemia at a 13-year-old girl, who had no history of illness. The diagnosis was made in spite of atypical skin lesions and was confirmed by the skin biopsy and the bone marrow examination. In spite of corticosteroid therapy and chemotherapy, the patient died. Sweet syndrome's diagnosis requires an exhaustive etiologic survey. If there is no evidence of underlying disease, patients must be regularly monitored.

  19. Loeys-Dietz Syndrome

    MedlinePlus

    ... syndrome is a genetic disorder of the body’s connective tissue. It has some features in common with Marfan ... a mutation, growth and development of the body’s connective tissue and other body systems is disrupted, leading to ...

  20. [Budd-Chiari syndrome].

    PubMed

    Plessier, A

    2013-12-01

    The management of the Budd-Chiari syndrome improved dramatically during the last 10 years and includes less invasive diagnostic modalities using modern imaging, identification of a myeloproliferative disorder in 20 to 50% of the patients using the V617F JAK2 mutation, and a graduate therapeutic strategy. The common association of Budd-Chiari syndrome with a thrombotic disorder is a reason for a thorough work-up (myeloproliferative disorder, defect in C or S protein, factor V Leiden, factor II mutation, antiphosholipid syndrome, and other less common disorders). Ultrasonography should to be performed by an experimented examiner, informed of the diagnostic suspicion. The 5-year survival rate of patients with Budd-Chiari syndrome, treated with this contemporary approach (anticoagulation, treatment of the underlying cause, recanalization, transjugular intrahepatic portosystemic shunting, and liver transplantation) is above 80%. PMID:24262409

  1. Sick sinus syndrome

    MedlinePlus

    ... sinus node or SA node. This keeps the heart beat steady and regular. Sick sinus syndrome is a ... Fatigue Dizziness or lightheadedness Sensation of feeling the heart beat ( palpitations ) Shortness of breath , possibly only with physical ...

  2. Empty sella syndrome

    MedlinePlus

    ... pituitary gland. Prolactin stimulates breast development and milk production in women. Complications of secondary empty sella syndrome are related to the cause of pituitary gland disease or to the effects of too little pituitary hormone.

  3. PHACE(S) syndrome.

    PubMed

    Heyer, Geoffrey L

    2015-01-01

    PHACE(S) syndrome is a neurocutaneous disorder of unknown etiology. The acronym refers to the commonest features of PHACE: posterior fossa malformations, large facial hemangiomas, cerebral arterial anomalies, cardiovascular anomalies, and eye anomalies. When ventral developmental defects such as sternal clefting or supraumbilical raphe occur, the PHACES acronym may be used. The hallmark feature of PHACE is the presence of one or more large facial infantile hemangiomas that occupy at least one facial segment. Infantile hemangiomas differ from the capillary malformation (port wine stain) of Sturge-Weber syndrome, and the arteriovenous malformation of Wyburn-Mason syndrome, distinguishing PHACE syndrome from other neurocutaneous disorders with red birthmarks. The true incidence of PHACE has not yet been established. Girls are more commonly affected than boys. Cerebral vascular anomalies are probably the most common extracutaneous feature. Given that several organ systems are involved, a multidisciplinary approach to disease surveillance and treatment is advised. PMID:26564079

  4. Empty Sella Syndrome

    MedlinePlus

    ... hormone deficiency, pituitary tumors, or pituitary gland dysfunction. Magnetic resonance imaging (MRI) scans are useful in evaluating ESS and for identifying underlying disorders that may be the cause of high fluid pressure. Is there any treatment? Unless the syndrome ...

  5. Miller Fisher Syndrome

    MedlinePlus

    ... sensory information to the spinal cord and brain. Magnetic resonance (MRI) or other imaging of the brain and/or spinal cord are usually normal. Spinal fluid protein is often elevated. Pure Fisher syndrome is ...

  6. Guillain-Barre Syndrome

    MedlinePlus

    Guillain-Barre syndrome is a rare disorder that causes your immune system to attack your peripheral nervous system ( ... over a period of weeks and then stabilize. Guillain-Barre can be hard to diagnose. Possible tests include ...

  7. Dandy-Walker Syndrome

    MedlinePlus

    ... The key features of this syndrome are an enlargement of the fourth ventricle (a small channel that ... early infancy, include slow motor development and progressive enlargement of the skull. In older children, symptoms of ...

  8. Chronic fatigue syndrome

    MedlinePlus

    Bennett RM. Fibromyalgia, chronic fatigue syndrome, and myofascial pain. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine . 25th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 274. Engleberg NC. Chronic ...

  9. Sudden Infant Death Syndrome

    MedlinePlus

    Sudden infant death syndrome (SIDS) is the sudden, unexplained death of an infant younger than one year old. Some people call ... boys, African Americans, and American Indian/Alaska Native infants have a higher risk of SIDS. Although health ...

  10. Shaken Baby Syndrome.

    ERIC Educational Resources Information Center

    Alexander, Randell C.; Smith, Wilbur L.

    1998-01-01

    Discusses the history, epidemiology, biomechanics, diagnosis, treatment, outcomes, long-term management, and prevention of shaken baby syndrome. It presents medical-legal issues as well as a discussion of programs aimed at prevention of physical abuse. (Author/DB)

  11. Irritable bowel syndrome - aftercare

    MedlinePlus

    Irritable bowel syndrome (IBS) may be a lifelong condition. You may be suffering from cramping and loose stools, diarrhea, constipation, or some combination of these symptoms. For some people, IBS symptoms may interfere with work, travel, and attending ...

  12. Fetal alcohol syndrome

    MedlinePlus

    Alcohol in pregnancy; Alcohol-related birth defects; Fetal alcohol effects; FAS ... varies. Almost none of these babies have normal brain development. Infants and children with fetal alcohol syndrome have many different problems, which can be ...

  13. Catastrophic Antiphospholipid Syndrome

    PubMed Central

    El-Abedin, Zein; Abdel Aziz, Rashad; Talat, Ibrahim; Saleh, Mohammed; Abdel-Samia, Hanna; Sameh, Amro; Sharha, Mahmoud

    2016-01-01

    This paper reports one case of successfully treated patients suffering from a rare entity, the catastrophic antiphospholipid syndrome (CAPS). Management of this patient is discussed in detail. PMID:27375916

  14. Patellofemoral Pain Syndrome

    MedlinePlus

    ... Physician January 15, 2007, http://www.aafp.org/afp/2007/0115/p194.html) Patellofemoral Pain Syndrome: A ... Physician November 01, 1999, http://www.aafp.org/afp/991101ap/2012.html) Written by familydoctor.org editorial ...

  15. International Rett Syndrome Foundation

    MedlinePlus

    ... toward treatments for millions of people around the world with Autism, Parkinson's, Alzheimers, Schizophrenia and Traumatic Brain ... your state! State Resources Rettsyndrome.org is the world's leading Rett syndrome research funding organization We have ...

  16. Complex Regional Pain Syndrome

    MedlinePlus

    Complex regional pain syndrome (CRPS) is a chronic pain condition. It causes intense pain, usually in the arms, hands, legs, or feet. ... in skin temperature, color, or texture Intense burning pain Extreme skin sensitivity Swelling and stiffness in affected ...

  17. Dumping syndrome (image)

    MedlinePlus

    Dumping syndrome occurs when the contents of the stomach empty too quickly into the small intestine. The ... causing nausea, cramping, diarrhea, sweating, faintness, and palpitations. Dumping usually occurs after the consumption of too much ...

  18. Congenital nephrotic syndrome

    MedlinePlus

    ... may be high. There may be signs of malnutrition. A urinalysis reveals fat and large amounts of ... The disorder often leads to infection, malnutrition, and kidney failure. ... die within the first year. Congenital nephrotic syndrome ...

  19. [Sudden infant death syndrome].

    PubMed

    Espinosa Morett, A; Shkurovich, M; Carlos Ugartechea, J; Mallet Arelano, A; Salmón Rodríguez, L E

    1976-01-01

    This report is based on a review of the present situation of the sudden infant death syndrome through the presentation of four cases studied at the Unidad de Pediatría, Hospital General de México, S.S.A. All cases were in apparent good health before death. All babies were less than ten months of age. In three cases, necropsy was not performed, and the other one did not show significant abnormalities at the post-mortem examination. A complete review of the literature was made including: historical, epidemiological, genetic, clinical and pathological aspects. Special emphasis is made on the pathophysiology of the syndrome during MOR phase of sleep and muscular hypertrophy of the lungs arteriolae suggesting chronic hypoxia which are the most relevant theories in the sudden infant death syndrome. Psychological aspects and the family management by the physician and detection of possible future victims of the syndrome are finally discussed. PMID:973858

  20. Treacher Collins Syndrome

    MedlinePlus

    ... cleft palate is a frequently associated conditions this syndrome. Cleft palate itself sometimes can cause feeding problems and increase the risk of middle ear problems. Your child’s primary care provider or cleft palate or craniofacial ...

  1. Capgras syndrome and dangerousness.

    PubMed

    Silva, J A; Leong, G B; Weinstock, R; Boyer, C L

    1989-01-01

    This article discusses Capgras syndrome and its association with harmful and potentially harmful behaviors. Phenomenological and psychodynamic analysis of a series of cases will highlight danger signals that may be present in Capgras patients.

  2. Blueberries and Metabolic Syndrome

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Metabolic Syndrome is a cluster of metabolic disorders that increase the risk of cardiovascular diseases. Type 2 diabetes, elevated blood pressure, and atherogenic dyslipidemia are among the metabolic alterations that predispose the individual to several adverse cardiovascular complications. The hea...

  3. Ramsay Hunt syndrome

    MedlinePlus

    ... or on the mouth. It occurs when the varicella-zoster virus infects a nerve in the head. ... The varicella-zoster virus that causes Ramsay Hunt syndrome is the same virus that causes chickenpox and shingles . In ...

  4. Crigler-Najjar syndrome

    MedlinePlus

    Seek genetic counseling if you are planning to have children and have a family history of Crigler-Najjar. Call your ... Genetic counseling is recommended for people with a family history of Crigler-Najjar syndrome who want to have ...

  5. Cri du chat syndrome

    MedlinePlus

    ... of a child with this syndrome should have genetic counseling and testing to determine if one parent has ... with the child's providers after leaving the hospital. Genetic counseling and testing is recommended for all people with ...

  6. Short bowel syndrome

    MedlinePlus

    Small intestine insufficiency; Short gut syndrome; Necrotizing enterocolitis - short bowel ... The small intestine absorbs much of the nutrients found in foods we eat. When one half or more of our small ...

  7. ADHD & Down Syndrome

    MedlinePlus

    ... at an accredited sleep center. What Types of Communication Difficulties Can Look Like ADHD? People with Down ... Down syndrome have a wide range of learning styles. A child's educational team may need to try ...

  8. Chronic Fatigue Syndrome

    MedlinePlus

    Chronic fatigue syndrome (CFS) is a disorder that causes extreme fatigue. This fatigue is not the kind of tired feeling that ... activities. The main symptom of CFS is severe fatigue that lasts for 6 months or more. You ...

  9. Frey's syndrome: case report.

    PubMed

    Haker, Jacqueline M; Mandel, Louis

    2012-01-01

    Frey's syndrome is characterized by facial sweating and flushing in the parotid area when saliva is stimulated. It usually results from damage to the auriculotemporal nerve during parotidectomy. PMID:23252196

  10. Lesch-Nyhan syndrome

    MedlinePlus

    ... motor development followed by abnormal movements and increased reflexes. A striking feature of Lesch-Nyhan syndrome is ... a physical exam. The exam may show: Increased reflexes Spasticity (having spasms) Blood and urine tests may ...

  11. Gorlin-Goltz syndrome

    PubMed Central

    Joshi, Priya Shirish; Deshmukh, Vijay; Golgire, Someshwar

    2012-01-01

    Gorlin-Goltz syndrome is an uncommon autosomal dominant inherited disorder, which is characterized by multiple odontogenic Keratocysts and basal cell carcinomas, skeletal, dental, ophthalmic, and neurological abnormalities, intracranial ectopic calcifications of the falx cerebri, and facial dysmorphism. Pathogenesis of the syndrome is attributed to abnormalities in the long arm of chromosome 9 (q22.3-q31) and loss or mutations of human patched gene (PTCH1 gene). Diagnosis is based upon established major and minor clinical and radiological criteria and ideally confirmed by deoxyribo nucleic acid analysis. We report a case of a 9-year-old girl presenting with three major and one minor feature of Gorlin-Goltz syndrome. Radiologic findings of the syndrome are easily identifiable on Orthopantomogram, chest X-ray, and Computed tomography scans. These investigations prompt an early verification of the disease, which is very important to prevent recurrence and better survival rates from the coexistent diseases. PMID:22363371

  12. Carpal Tunnel Syndrome

    MedlinePlus

    ... through NIH's National Center for Complementary and Alternative Medicine are investigating the effects of acupuncture on pain, loss of median nerve function, and changes in the brain associated with carpal tunnel syndrome. In addition, a ...

  13. Nephrotic Syndrome in Adults

    MedlinePlus

    ... normal fat and cholesterol levels in the blood edema, or swelling, usually in the legs, feet, or ... to absorb extra fluid from the body, causing edema. Nephrotic syndrome results from a problem with the ...

  14. Alport Syndrome Foundation

    MedlinePlus

    ... to register to receive the newsletter each month. Events Annual Campaign for Healthy Kidneys The Annual Campaign ... Syndrome. For more details about these and other events, go to Upcoming Events . To read about recent ...

  15. What Is Marfan Syndrome?

    MedlinePlus

    ... symptoms get worse as the person gets older. Skeleton People with Marfan syndrome are often very tall, ... can help treat and sometimes prevent related problems. Skeleton Getting a yearly exam of the spine and ...

  16. Restless legs syndrome

    MedlinePlus

    ... they sleep. This condition is called periodic limb movement disorder. All of these symptoms make it hard to ... treatment of restless legs syndrome and periodic limb movement disorder in adults-an update for 2012: practice parameters ...

  17. Thoracic Outlet Syndrome

    MedlinePlus

    Thoracic outlet syndrome (TOS) causes pain in the shoulder, arm, and neck. It happens when the nerves or blood vessels just below your ... vein is compressed, your hand might be sensitive to cold, or turn pale or bluish. Your arm ...

  18. Multiple Endocrine Neoplasia Syndromes

    MedlinePlus

    ... or cancerous (malignant) tumors or grow excessively without forming tumors. Multiple endocrine neoplasia syndromes are caused by ... This Article Generic Name Select Brand Names corticotropin H.P. ACTHAR GEL epinephrine ADRENALIN Multiple Endocrine Neoplasia ...

  19. Living with Marfan Syndrome

    MedlinePlus

    ... live longer and enjoy a good quality of life. Many people who have Marfan syndrome and are ... tears and leaks blood. Aortic dissection is a life-threatening condition. The main symptom of aortic dissection ...

  20. Blind loop syndrome

    MedlinePlus

    ... operations for extreme obesity As a complication of inflammatory bowel disease Diseases such as diabetes or scleroderma may slow down movement in a segment of the intestine, leading to blind loop syndrome.

  1. Neuroleptic malignant syndrome.

    PubMed

    Ingall, T J; Tennant, C

    1986-11-01

    The neuroleptic malignant syndrome is a relatively rare but potentially fatal complication of the use of major tranquillizers; mortality may be as high as 20%. The syndrome is manifest by the onset of hyperpyrexia, muscular rigidity and tremor, impaired consciousness and autonomic dysfunction. The pathophysiology is thought to be by way of dopamine receptor blockade. The syndrome is managed by cessation of the neuroleptic medication, by supportive measures and by instituting treatment with one or more of a number of specific drugs whose use is based on theoretical considerations rather than empirical evidence of efficacy; these drugs include anticholinergics, L-dopa, bromocriptine amantidine and dantrolene sodium. Although not proven, early recognition and treatment may reduce both the mortality and the longer term morbidity of this syndrome. PMID:3773831

  2. Fragile X Syndrome

    MedlinePlus

    Fragile X syndrome is the most common form of inherited developmental disability. A problem with a specific gene causes ... the protein. This causes the symptoms of Fragile X. People with only a small change in the ...

  3. Carpal Tunnel Syndrome

    MedlinePlus

    ... arm. Just a passing cramp? It could be carpal tunnel syndrome. The carpal tunnel is a narrow passageway of ligament and ... difficult. Often, the cause is having a smaller carpal tunnel than other people do. Other causes include ...

  4. Impingement syndrome (image)

    MedlinePlus

    ... arch of the shoulder blade, it can cause shoulder pain called impingement syndrome. The tendons become compressed, damaged, and inflamed leading to rotator cuff tendonitis. This can occur ... use of the shoulder like baseball pitching, or from an injury.

  5. Barth Syndrome (BTHS)

    MedlinePlus

    ... syndrome (BTHS) is a rare, genetic disorder of lipid metabolism that primarily affects males. It is caused ... required to produce cardiolipin. Cardiolipin is an essential lipid that is important in energy metabolism. BTHS, which ...

  6. Atypical charles bonnet syndrome.

    PubMed

    Arun, Priti; Jain, Rajan; Tripathi, Vaibhav

    2013-10-01

    Charles Bonnet syndrome (CBS) is not uncommon disorder. It may not present with all typical symptoms and intact insight. Here, a case of atypical CBS is reported where antipsychotics were not effective. Patient improved completely after restoration of vision.

  7. Exogenous Cushing syndrome

    MedlinePlus

    ... a higher than normal level of the hormone cortisol. This hormone is normally made in the adrenal ... suggest exogenous Cushing syndrome: Low ACTH level Low cortisol level (or high cortisol level) depending on the ...

  8. Obstructive sleep apnea syndrome.

    PubMed

    Jaquis, J

    1987-06-01

    Obstructive sleep apnea syndrome is estimated to affect 2 million to 3 million Americans. Obstructive sleep apnea syndrome is a breathing pattern characterized by periods of apnea alternating with periods of arousal and breathing, a pattern that recurs throughout the sleep cycle. It is important for the nurse practitioner to be able to recognize the signs and symptoms of the syndrome in order to initiate diagnostic testing. The role of the nurse practitioner also involves education of the client and family regarding the disease process and treatment modalities. The client and client's family will need help in coping with the diagnosis and possibly with the physical and psychological symptoms experienced. This article outlines the disease process, treatment modalities, possible complications and the role of the nurse practitioner in assisting the client with obstructive sleep apnea syndrome.

  9. Restless Legs Syndrome

    MedlinePlus

    ... Funding Information Research Programs Training & Career Awards Enhancing Diversity Find People About NINDS NINDS Restless Legs Syndrome ... News From NINDS | Find People | Training | Research | Enhancing Diversity Careers@NINDS | FOIA | Accessibility Policy | Contact Us | Privacy ...

  10. Shaken Baby Syndrome

    MedlinePlus

    ... Funding Information Research Programs Training & Career Awards Enhancing Diversity Find People About NINDS NINDS Shaken Baby Syndrome ... News From NINDS | Find People | Training | Research | Enhancing Diversity Careers@NINDS | FOIA | Accessibility Policy | Contact Us | Privacy ...

  11. Post-Polio Syndrome

    MedlinePlus

    ... Funding Information Research Programs Training & Career Awards Enhancing Diversity Find People About NINDS NINDS Post-Polio Syndrome ... News From NINDS | Find People | Training | Research | Enhancing Diversity Careers@NINDS | FOIA | Accessibility Policy | Contact Us | Privacy ...

  12. Facts about Down Syndrome

    MedlinePlus

    ... the fluid from the sac surrounding the baby) Percutaneous umbilical blood sampling (PUBS)—examines blood from ... therapy, and they are typically offered through early intervention programs in each state. Children with Down syndrome ...

  13. Acute Radiation Syndrome

    MedlinePlus

    ... Dictionary Radiation Emergencies & Your Health Possible Health Effects Contamination and Exposure Acute Radiation Syndrome (ARS) Cutaneous Radiation ... Decision Making in Radiation Emergencies Protective Actions Internal Contamination Clinical Reference (ICCR) Application Psychological First Aid in ...

  14. What is Metabolic Syndrome?

    MedlinePlus

    ... becoming more common due to a rise in obesity rates among adults. In the future, metabolic syndrome may overtake smoking as the leading risk factor for heart disease. It is possible to prevent or delay ...

  15. Munchausen by Proxy Syndrome

    MedlinePlus

    ... syndrome (MBPS) is a relatively rare form of child abuse that involves the exaggeration or fabrication of illnesses ... by a primary caretaker. Also known as "medical child abuse," MBPS was named after Baron von Munchausen, an ...

  16. Laugier Hunziker syndrome.

    PubMed

    Jabbari, Ali; Gonzalez, Mercedes E; Franks, Andrew G; Sanchez, Miguel

    2010-11-15

    Laugier Hunziker syndrome is a rare disorder that is characterized by adult-onset hyperpigmented macules of the lips, oral cavity, and fingertips. Longitudinal melanonychia is present in the majority of cases. We present a 45-year-old woman with adult-onset hyperpigmented macules of the oral cavity as well as linear melanonychia that involved multiple fingernails. The history, clinical examination, and paucity of laboratory abnormalities or systemic findings support a diagnosis of Laugier Hunziker syndrome.

  17. Unmasking Diogenes Syndrome

    PubMed Central

    Nayak, Kashinath; Gopinath, Hima; Kini, Hema; Kumar, Pramod

    2015-01-01

    Diogenes syndrome is characterized by extreme self-neglect, social withdrawal, and poor personal and domestic hygiene. We report a case of Diogenes syndrome presenting with dermatitis passivata. An unusual “mask” of dirt resembling a carapace, onset of neglect after awareness of a breast lump and resumption of personal grooming and social activities after removal of the lump and counseling were seen. PMID:26120158

  18. Hypokalemia syndrome in cattle.

    PubMed

    Sattler, Nicolas; Fecteau, Gilles

    2014-07-01

    This article describes hypokalemia syndrome. Lactating dairy cows seem to be at the highest risk, but younger animals may also develop the disease. At present, except for animals treated with repeated isoflupredone acetate administration, the exact determinants causing hypokalemia syndrome remain uncertain. Affected animals are anorexic, weak to recumbent, and most often show signs of gastrointestinal stasis. Treatment is directed toward supportive care and oral potassium supplementation.

  19. Observations on Melkersson's syndrome

    PubMed Central

    Scott, George A.

    1968-01-01

    The findings in nine cases of Melkersson's syndrome are presented. It is suggested that this condition is less uncommon than is generally realized. A careful personal and family history should be taken in all cases of Bell's palsy, and the tongue examined, if this syndrome is to be recognized. Observations are made on the possible aetiology and on treatment. ImagesFig. 1Fig. 2 PMID:5665744

  20. Chanarin-Dorfman Syndrome.

    PubMed

    Waheed, Nadia; Cheema, Huma Arshad; Suleman, Hassan; Mushtaq, Iqra; Fayyaz, Zafar

    2016-09-01

    Chanarin-Dorfman syndrome is a rare, genetically determined autosomal recessive disorder, characterised by the presence of lipid droplets in the cytoplasm of multiple tissues of the body, particularly in the blood leukocytes and congenital non-bullous icthyosiform erythroderma. In this paper, we report one-year child who presented with skin lesions since birth and hepatomegaly. Liver biopsy showed steatohepatitis; and peripheral blood smear confirmed Jordan`s anomaly, which is a permanent feature of Chanarin-Dorfman syndrome. PMID:27671187

  1. Brooke-Spiegler syndrome.

    PubMed

    Szepietowski, J C; Wasik, F; Szybejko-Machaj, G; Bieniek, A; Schwartz, R A

    2001-07-01

    The Brooke-Spiegler syndrome is an autosomal dominant one characterized by cylindromas, trichoepitheliomas and occasionally spiradenomas. Within a given family, some members may have cylindromas whereas others may have trichoepitheliomas or both. We describe the coexistence of trichoepithelioma papulosum multiplex (also known as epithelioma adenoides cysticum of Brooke) and cylindromas in a 30-year-old man, and discuss the relationship between these two autosomal dominant syndromes.

  2. Gorlin-Goltz syndrome

    PubMed Central

    Jawa, Deepti Singh; Sircar, Keya; Somani, Rani; Grover, Neeraj; Jaidka, Shipra; Singh, Sanjeet

    2009-01-01

    Gorlin-Goltz syndrome is an autosomal dominant inherited disorder characterized by the presence of multiple odontogenic keratocysts along with various cutaneous, dental, osseous, ophthalmic, neurological, and sex organ abnormalities. Early diagnosis is essential as it may progress to aggressive basal cell carcinomas and neoplasias. Gorlin-Goltz syndrome has rarely been reported from India. We report here one such patient, diagnosed at a rural hospital. PMID:21887009

  3. Gorlin-Goltz syndrome

    PubMed Central

    Kohli, Munish; Kohli, Monica; Sharma, Naresh; Siddiqui, Saif Rauf; Tulsi, S.P.S.

    2010-01-01

    Gorlin-Goltz syndrome is an inherited autosomal dominant disorder with complete penetrance and extreme variable expressivity. The authors present a case of an 11-year-old girl with typical features of Gorlin-Goltz syndrome with special respect to medical and dental problems which include multiple bony cage deformities like spina bifida with scoliosis having convexity to the left side, presence of an infantile uterus and multiple odonogenic keratocysts in the maxillofacial region. PMID:22442551

  4. Hemiparkinsonism-hemiatrophy syndrome.

    PubMed

    Ayromlou, Hormoz; Najmi, Safa; Arami, Mohammad Ali

    2011-03-01

    The syndrome of hemiparkinsonism-hemiatrophy is an uncommon form of secondary Parkinsonism that presents with unilateral body Parkinsonism plus variable atrophy on the same side. Diagnosis of this syndrome needs a complete past medical history taking, as well as assessment of the familial history, clinical examination and complete paraclinical tests.The response to medical therapy has been variable in various researches. This case showed a good response to the addition of a dopamine agonist to levodopa therapy.

  5. DHAT SYNDROME REVISITED

    PubMed Central

    Singh, Gurmeet

    1985-01-01

    SUMMARY Fifty consequetive patients of male potency disorders were examined and classified as Dhat Syndrome, Impotence or Premature ejaculation depending on definition laid down for these. Dhat syndrome has been found predominantly in young adults. Thirty one patients (62%) complained of Dhat as a major symptom. Associated diagnosis was depression (48%) and anxiety neurosis (16%). No psychiatric disorder was noticed in 16 (32%) cases. The socio-demographic relationships are given and difficulty in handling such patients has been discussed. PMID:21927085

  6. Temperament in Velocardiofacial Syndrome

    ERIC Educational Resources Information Center

    Antshel, K. M.; Stallone, K.; AbdulSabur, N.; Shprintzen, R.; Roizen, N.; Higgins, A. M.; Kates, W. R.

    2007-01-01

    Background: Velocardiofacial syndrome (VCFS) is a microdeletion syndrome caused by a 22q11.2 chromosomal deletion. Methods: In this study, parents reported on their own temperament as well as the temperament of their child. Sixty-seven children with VCFS (mean age = 10.8, SD = 2.8; range 6-15), and age-, race- and gender-ratio matched samples of…

  7. Cardiac Munchausen's syndrome.

    PubMed Central

    Dickinson, E J; Evans, T R

    1987-01-01

    Ten years' experience of cardiac Munchausen's syndrome in the Cardiac Care Unit of an Inner London teaching hospital is reported. Thirty-six admissions in this category were identified and analysed, and 4 typical cases are described. The common presenting complaints, recurring features and the relationship with other forms of Munchausen's syndrome are discussed, as are possible strategies available to deal with this clinical entity. PMID:3694601

  8. Syndrome in question*

    PubMed Central

    Dalapicola, Monique Coelho; Veasey, John Verrinder; Lellis, Rute Facchini

    2016-01-01

    Ross syndrome is a rare disease characterized by peripheral nervous system dysautonomia with selective degeneration of cholinergic fibers. It is composed by the triad of unilateral or bilateral segmental anhidrosis, deep hyporeflexia and Holmes-Adie's tonic pupil. The presence of compensatory sweating is frequent, usually the symptom that most afflicts patients. The aspects of the syndrome are put to discussion due to the case of a male patient, caucasian, 47 years old, with clinical onset of 25 years. PMID:26982793

  9. Duane's retraction syndrome associated with morning glory syndrome.

    PubMed

    Kawano, K; Fujita, S

    1981-01-01

    A 9-year-old boy with Duane's retraction syndrome and morning glory syndrome is presented. The right eye showed a grayish-pink optic disc, which had a deep excavation containing a white mass in its center and was surrounded by an annulus of pigment disturbance, i.e., consistent with the features of morning glory syndrome. The left eye had a congenital disturbance of ocular motility, which was typical of Duane's retraction syndrome. This is probably the first report of the association of Duane's retraction syndrome and morning glory syndrome. It is hypothesized that a noxious stimulus given at around two months of gestation was responsible for this rare association.

  10. Lehman syndrome: a new syndrome for pierre robin sequence.

    PubMed

    Correia-Sá, Inês; Horta, Ricardo; Neto, Tiago; Amarante, José; Marques, Marisa

    2015-05-01

    Lehman syndrome, or lateral meningocele syndrome, is characterized by facial dysmorphism, multiple lateral meningoceles, and skeletal abnormalities. Only nine cases have been described. We present a case of a 2-year-old boy presenting with micrognathia, glossoptosis, and hypertelorism as well as associated severe obstructive sleep apnea. He was submitted to bilateral mandibular distraction with external nonresorbable devices to correct Pierre Robin sequence (PRS). Later, multiple lateral meningoceles were identified, and a diagnosis of Lehman syndrome was made. Lehman syndrome must be considered in syndromic infants with PRS. Distraction osteogenesis is a safe procedure that is effective as a first choice in the treatment of patients with Lehman syndrome presenting with micrognathia.

  11. Potential Mechanisms for Cancer Resistance in Elephants and Comparative Cellular Response to DNA Damage in Humans

    PubMed Central

    Abegglen, Lisa M.; Caulin, Aleah F.; Chan, Ashley; Lee, Kristy; Robinson, Rosann; Campbell, Michael S.; Kiso, Wendy K.; Schmitt, Dennis L.; Waddell, Peter J; Bhaskara, Srividya; Jensen, Shane T.; Maley, Carlo C.; Schiffman, Joshua D.

    2016-01-01

    IMPORTANCE Evolutionary medicine may provide insights into human physiology and pathophysiology, including tumor biology. OBJECTIVE To identify mechanisms for cancer resistance in elephants and compare cellular response to DNA damage among elephants, healthy human controls, and cancer-prone patients with Li-Fraumeni syndrome (LFS). DESIGN, SETTING, AND PARTICIPANTS A comprehensive survey of necropsy data was performed across 36 mammalian species to validate cancer resistance in large and long-lived organisms, including elephants (n = 644). The African and Asian elephant genomes were analyzed for potential mechanisms of cancer resistance. Peripheral blood lymphocytes from elephants, healthy human controls, and patients with LFS were tested in vitro in the laboratory for DNA damage response. The study included African and Asian elephants (n = 8), patients with LFS (n = 10), and age-matched human controls (n = 11). Human samples were collected at the University of Utah between June 2014 and July 2015. EXPOSURES Ionizing radiation and doxorubicin. MAIN OUTCOMES AND MEASURES Cancer mortality across species was calculated and compared by body size and life span. The elephant genome was investigated for alterations in cancer-related genes. DNA repair and apoptosis were compared in elephant vs human peripheral blood lymphocytes. RESULTS Across mammals, cancer mortality did not increase with body size and/or maximum life span (eg, for rock hyrax, 1% [95%CI, 0%–5%]; African wild dog, 8%[95%CI, 0%–16%]; lion, 2%[95%CI, 0% –7%]). Despite their large body size and long life span, elephants remain cancer resistant, with an estimated cancer mortality of 4.81% (95%CI, 3.14%–6.49%), compared with humans, who have 11% to 25%cancer mortality. While humans have 1 copy (2 alleles) of TP53, African elephants have at least 20 copies (40 alleles), including 19 retrogenes (38 alleles) with evidence of transcriptional activity measured by reverse transcription polymerase chain

  12. Infections in myelodysplastic syndromes

    PubMed Central

    Toma, Andréa; Fenaux, Pierre; Dreyfus, François; Cordonnier, Catherine

    2012-01-01

    Myelodysplastic syndromes are associated with a risk of severe infections. While neutropenia is likely to be the main predisposing factor, several other immune defects have been reported, including impaired neutrophil function, B-, T- and NK-cell defects and the possible consequences of iron overload due to red blood cell transfusions. The advanced age of most patients, their frequent comorbidities, and the fact that drugs such as hypomethylating agents and lenalidomide, which are effective in myelodysplastic syndromes but can transiently worsen neutropenia, may increase the risk of infection and their severity in this context. The majority of infections in myelodysplastic syndromes are bacterial, while the incidence of fungal infections is not well known and viral infections seem to be rare. No prophylactic measures against infections have demonstrated efficacy in myelodysplastic syndromes. However, pending more data, we propose here some recommendations for the management of patients with myelodysplastic syndromes. In the future, an important contribution can be made by prospective trials testing the efficacy of prophylactic and therapeutic approaches to infection in these patients, especially in the context of the new drugs available for myelodysplastic syndromes. PMID:22733024

  13. Epidermal nevus syndromes.

    PubMed

    Asch, Sarah; Sugarman, Jeffrey L

    2015-01-01

    The term epidermal nevus syndrome (ENS) has been used to describe the association of epidermal hamartomas and extracutaneous abnormalities. Although many continue to use the term "ENS," it is now understood that this is not one disease, but rather a heterogeneous group with distinct genetic profiles defined by a common cutaneous phenotype: the presence of epidermal and adnexal hamartomas that are associated with other organ system involvement. One commonality is that epidermal nevi often follow the lines of Blaschko and it appears the more widespread the cutaneous manifestations, the greater the risk for extracutaneous manifestations. The majority of the extracutaneous manifestations involve the brain, eye, and skeletal systems. The CNS involvement is wide ranging and involves both clinical manifestations such as intellectual disability and seizures, as well as structural anomalies. Several subsets of ENS with characteristic features have been delineated including the nevus sebaceus syndrome, Proteus syndrome, CHILD syndrome, Becker's nevus syndrome, nevus comedonicus syndrome, and phakomatosis pigmentokeratotica. Advances in molecular biology have revealed that the manifestations of ENS are due to genomic mosaicism. It is likely that the varied clinical manifestations of ENS are due in great part to the functional effects of specific genetic defects. Optimal management of the patient with ENS involves an interdisciplinary approach given the potential for multisystem involvement. Of note, epidermal nevi have been associated with both benign and malignant neoplasms, and thus ongoing clinical follow-up is required.

  14. Learning about Cri du Chat Syndrome

    MedlinePlus

    ... chat syndrome - also known as 5p- syndrome and cat cry syndrome - is a rare genetic condition that ... du chat syndrome usually include a high-pitched cat-like cry, mental retardation, delayed development, distinctive facial ...

  15. Takotsubo Syndrome: Insights from Japan.

    PubMed

    Akashi, Yoshihiro J; Ishihara, Masaharu

    2016-10-01

    We report the history and new insights of takotsubo syndrome based on the achievements that Japanese researchers have contributed and summarize the evidence originally presented from Japan. Takotsubo syndrome is a newly described heart failure characterized by transient left ventricular dysfunction. We should be aware of this entity as a syndrome, not actual cardiomyopathy. Japanese researchers focus on the experimental approaches for clinical diagnosis and treatment of takotsubo syndrome. As representatives from a country originally naming this syndrome takotsubo, a global registry for takotsubo syndrome including Japan should be established.

  16. Takotsubo Syndrome: Insights from Japan.

    PubMed

    Akashi, Yoshihiro J; Ishihara, Masaharu

    2016-10-01

    We report the history and new insights of takotsubo syndrome based on the achievements that Japanese researchers have contributed and summarize the evidence originally presented from Japan. Takotsubo syndrome is a newly described heart failure characterized by transient left ventricular dysfunction. We should be aware of this entity as a syndrome, not actual cardiomyopathy. Japanese researchers focus on the experimental approaches for clinical diagnosis and treatment of takotsubo syndrome. As representatives from a country originally naming this syndrome takotsubo, a global registry for takotsubo syndrome including Japan should be established. PMID:27638028

  17. Autoimmune Basis for Postural Tachycardia Syndrome

    ClinicalTrials.gov

    2016-10-14

    Postural Orthostatic Tachycardia Syndrome; Postural Tachycardia Syndrome; Tachycardia; Arrhythmias, Cardiac; Autonomic Nervous System Diseases; Orthostatic Intolerance; Cardiovascular Diseases; Primary Dysautonomias

  18. [Paraneoplastic hormonal syndromes].

    PubMed

    Forga, L; Anda, E; Martínez de Esteban, J P

    2005-01-01

    We can define paraneoplastic syndromes as a combination of effects occurring far from the original location of the tumour and independently from the local repercussion of its metastases. Paraneoplastic hormonal syndromes depend on the secretion of hormonal peptides or their precursors, cytokines and, more rarely, thyroidal hormones and Vitamin D, which act in an endocrine, paracrine or autocrine way. Sometimes, paraneoplastic syndromes can be more serious than the consequences of the primary tumour itself and can precede, develop in parallel, or follow the manifestations of this tumour. It is important to recognise a paraneoplastic hormonal syndrome for several reasons, amongst which we would draw attention to three: 1) It can lead to the diagnosis of a previously undetected, underlying malign or benign neoplasia; 2) It can dominate the clinical picture and thus lead to errors with respect to the origin and type of primary tumour; and 3) It can follow the clinical course of the underlying tumour and thus be useful for monitoring its evolution. The molecular mechanisms responsible for the development of these syndromes are not well-known, but it is believed that they might be inherent to the mutations responsible for the primary tumour or depend on epigenetic factors such as methylation. In this review, we consider the following paraneoplastic hormonal syndromes: malign hypercalcaemia, hyponatraemia (inappropiate secretion of the antidiuretic hormone), ectopic Cushing's syndrome, ectopic acromegaly, hypoglycaemia due to tumours different from those of the islet cells and paraneoplastic gynaecomastia; we make a brief final reference to other hormones (calcitonin, somatostatin, and VIP). PMID:16155618

  19. Nevoid basal cell carcinoma syndrome (Gorlin syndrome).

    PubMed

    Lo Muzio, Lorenzo

    2008-01-01

    Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a hereditary condition characterized by a wide range of developmental abnormalities and a predisposition to neoplasms. The estimated prevalence varies from 1/57,000 to 1/256,000, with a male-to-female ratio of 1:1. Main clinical manifestations include multiple basal cell carcinomas (BCCs), odontogenic keratocysts of the jaws, hyperkeratosis of palms and soles, skeletal abnormalities, intracranial ectopic calcifications, and facial dysmorphism (macrocephaly, cleft lip/palate and severe eye anomalies). Intellectual deficit is present in up to 5% of cases. BCCs (varying clinically from flesh-colored papules to ulcerating plaques and in diameter from 1 to 10 mm) are most commonly located on the face, back and chest. The number of BBCs varies from a few to several thousand. Recurrent jaw cysts occur in 90% of patients. Skeletal abnormalities (affecting the shape of the ribs, vertebral column bones, and the skull) are frequent. Ocular, genitourinary and cardiovascular disorders may occur. About 5-10% of NBCCS patients develop the brain malignancy medulloblastoma, which may be a potential cause of early death. NBCCS is caused by mutations in the PTCH1 gene and is transmitted as an autosomal dominant trait with complete penetrance and variable expressivity. Clinical diagnosis relies on specific criteria. Gene mutation analysis confirms the diagnosis. Genetic counseling is mandatory. Antenatal diagnosis is feasible by means of ultrasound scans and analysis of DNA extracted from fetal cells (obtained by amniocentesis or chorionic villus sampling). Main differential diagnoses include Bazex syndrome, trichoepithelioma papulosum multiplex and Torre's syndrome (Muir-Torre's syndrome). Management requires a multidisciplinary approach. Keratocysts are treated by surgical removal. Surgery for BBCs is indicated when the number of lesions is limited; other treatments include laser ablation, photodynamic

  20. Nevoid basal cell carcinoma syndrome (Gorlin syndrome)

    PubMed Central

    Lo Muzio, Lorenzo

    2008-01-01

    Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a hereditary condition characterized by a wide range of developmental abnormalities and a predisposition to neoplasms. The estimated prevalence varies from 1/57,000 to 1/256,000, with a male-to-female ratio of 1:1. Main clinical manifestations include multiple basal cell carcinomas (BCCs), odontogenic keratocysts of the jaws, hyperkeratosis of palms and soles, skeletal abnormalities, intracranial ectopic calcifications, and facial dysmorphism (macrocephaly, cleft lip/palate and severe eye anomalies). Intellectual deficit is present in up to 5% of cases. BCCs (varying clinically from flesh-colored papules to ulcerating plaques and in diameter from 1 to 10 mm) are most commonly located on the face, back and chest. The number of BBCs varies from a few to several thousand. Recurrent jaw cysts occur in 90% of patients. Skeletal abnormalities (affecting the shape of the ribs, vertebral column bones, and the skull) are frequent. Ocular, genitourinary and cardiovascular disorders may occur. About 5–10% of NBCCS patients develop the brain malignancy medulloblastoma, which may be a potential cause of early death. NBCCS is caused by mutations in the PTCH1 gene and is transmitted as an autosomal dominant trait with complete penetrance and variable expressivity. Clinical diagnosis relies on specific criteria. Gene mutation analysis confirms the diagnosis. Genetic counseling is mandatory. Antenatal diagnosis is feasible by means of ultrasound scans and analysis of DNA extracted from fetal cells (obtained by amniocentesis or chorionic villus sampling). Main differential diagnoses include Bazex syndrome, trichoepithelioma papulosum multiplex and Torre's syndrome (Muir-Torre's syndrome). Management requires a multidisciplinary approach. Keratocysts are treated by surgical removal. Surgery for BBCs is indicated when the number of lesions is limited; other treatments include laser ablation, photodynamic

  1. Pre-Menstrual Syndrome in Women with Down Syndrome

    ERIC Educational Resources Information Center

    Mason, Linda; Cunningham, Cliff

    2009-01-01

    Background: Prevalence of pre-menstrual syndrome (PMS) may be higher in women with Down syndrome due to syndrome specific characteristics in biochemistry, psychopathology and lifestyle. Recognition of PMS may be difficult for women with intellectual disabilities and their carers. Method: A daily diary, used to diagnose PMS with typical women, was…

  2. Behavioral features of CHARGE syndrome (Hall-Hittner syndrome) comparison with Down syndrome, Prader-Willi syndrome, and Williams syndrome.

    PubMed

    Graham, John M; Rosner, Beth; Dykens, Elisabeth; Visootsak, Jeannie

    2005-03-15

    CHARGE syndrome, or Hall-Hitner syndrome (HHS), has been delineated as a common syndrome that includes coloboma, choanal atresia, cranial nerve dysfunction (particularly asymmetric facial palsy and neurogenic swallowing problems), characteristic ear abnormalities, deafness with hypoplasia of the cochlea and semicircular canals, genital hypoplasia, and variable heart defects, orofacial clefting, tracheo-esophageal fistula, renal anomalies, thymic/parathyroid hypoplasia, spine anomalies, short broad neck with sloping shoulders, and characteristic facial features. We conducted behavioral and personality assessments in 14 boys with HHS syndrome aged 6-21 years, and compared their characteristics with similar data from 20 age-matched boys with Down syndrome (DS), 17 boys with Prader-Willi syndrome (PWS), and 16 boys with Williams syndrome (WS). We used the Reiss Profile of Fundamental Goals and Motivation Sensitivities, the Achenbach Child Behavior Checklist (CBCL), and the Aberrant Behavior Checklist (ABC). All 14 boys with HHS were legally deaf, and 10 of the 14 were also legally blind. In comparison these other syndromes, boys with HHS had behavior that resembled autistic spectrum disorder. They were socially withdrawn, lacked interest in social contact, and manifested reduced seeking of attention from others, with hyperactivity and a need to maintain order. Though the boys with HHS showed decreased social interaction, they were not as socially impaired as in classic autism. Their language was delayed due to dual sensory impairment, cranial nerve deficits, and chronic medical problems, but their language style was not abnormal (no echolalia or jargon, no scripted phrases, and no pronoun reversal). Boys with HSS appeared frustrated, but they were not aggressive, or at risk for delinquency, manifesting few stereotypic behaviors or unusual preoccupations. They did not have a restricted repertoire of activities and interests. Their behavioral features appeared to be due

  3. Genetics Home Reference: Kleefstra syndrome

    MedlinePlus

    ... Resources (1 link) National Human Genome Research Institute: Chromosome Abnormalities Educational Resources (5 links) Centers for Disease Control and Prevention: Intellectual Disability Disease InfoSearch: Chromosome 9q Deletion Syndrome MalaCards: kleefstra syndrome Orphanet: Kleefstra ...

  4. Genetics Home Reference: Timothy syndrome

    MedlinePlus

    ... cause irregular heartbeats (arrhythmia), which can lead to sudden death. Many people with Timothy syndrome are also born ... syndrome and a greater risk of arrhythmia and sudden death. Unlike the classic type, the atypical type does ...

  5. Genetics Home Reference: GRACILE syndrome

    MedlinePlus

    ... syndrome have a buildup of a chemical called lactic acid in the body (lactic acidosis). They also have kidney problems that lead to an excess of molecules called amino acids in the urine (aminoaciduria). Babies with GRACILE syndrome ...

  6. Genetic Features of Turner Syndrome

    MedlinePlus

    ... Current Studies Publications Lab Staff Contact Info Links Genetic Features Quick Navigation Introduction X-monosomy X-mosaicism ... Figure 3. X Chromosome Abnormalities Figure 4. Mosaicism Genetic Features of Turner Syndrome Turner syndrome is a ...

  7. Middle East Respiratory Syndrome (MERS)

    MedlinePlus

    Middle East Respiratory Syndrome Coronavirus; MERS-CoV; Novel coronavirus; nCoV ... Centers for Disease Control and Prevention. Middle East Respiratory Syndrome (MERS): Frequently Asked Questions and Answers. Updated ...

  8. Genetics Home Reference: FG syndrome

    MedlinePlus

    ... family diagnosed with the disorder. FG syndrome affects intelligence and behavior. Almost everyone with the condition has ... detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome. Am ...

  9. Genetics Home Reference: cardiofaciocutaneous syndrome

    MedlinePlus

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions cardiofaciocutaneous syndrome cardiofaciocutaneous syndrome Enable ...

  10. Genetics Home Reference: Feingold syndrome

    MedlinePlus

    ... Brunner HG. Feingold syndrome: clinical review and genetic mapping. Am J Med Genet A. 2003 Nov 1; ... Brunner HG. MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome. Nat ...

  11. Genetics Home Reference: Brugada syndrome

    MedlinePlus

    ... Brugada syndrome. Methodist Debakey Cardiovasc J. 2014 Jan-Mar;10(1):25-8. Review. Citation on PubMed ... ER. Brugada syndrome: an update. Future Cardiol. 2013 Mar;9(2):253-71. doi: 10.2217/fca. ...

  12. Genetics Home Reference: Cowden syndrome

    MedlinePlus

    ... conditions can be caused by mutations in the PTEN gene. Some people with Cowden syndrome have had ... represent a spectrum of overlapping features known as PTEN hamartoma tumor syndrome instead of two distinct conditions. ...

  13. Review of the refeeding syndrome.

    PubMed

    Kraft, Michael D; Btaiche, Imad F; Sacks, Gordon S

    2005-12-01

    Refeeding syndrome describes a constellation of metabolic disturbances that occur as a result of reinstitution of nutrition to patients who are starved or severely malnourished. Patients can develop fluid and electrolyte disorders, especially hypophosphatemia, along with neurologic, pulmonary, cardiac, neuromuscular, and hematologic complications. We reviewed literature on refeeding syndrome and the associated electrolyte abnormalities, fluid disturbances, and associated complications. In addition to assessing scientific literature, we also considered clinical experience and judgment in developing recommendations for prevention and treatment of refeeding syndrome. The most important steps are to identify patients at risk for developing refeeding syndrome, institute nutrition support cautiously, and correct and supplement electrolyte and vitamin deficiencies to avoid refeeding syndrome. We provide suggestions for the prevention of refeeding syndrome and suggestions for treatment of electrolyte disturbances and complications in patients who develop refeeding syndrome, according to evidence in the literature, the pathophysiology of refeeding syndrome, and clinical experience and judgment.

  14. Refeeding syndrome: a clinical review.

    PubMed

    Ormerod, Clare; Farrer, Kirstine; Harper, Lindsay; Lal, Simon

    2010-12-01

    Refeeding syndrome can result in a wide variety of complications and may be life threatening. Although well described in hospital practice, refeeding syndrome is often under-recognized and inadequately treated.

  15. [Paraneoplastic rheumatic syndromes].

    PubMed

    Gracia-Ramos, Abraham Edgar; Vera-Lastra, Olga Lidia

    2012-01-01

    Paraneoplastic rheumatic syndromes are defined as those events associated with cancer that occur away from the primary tumor or its metastases and are induced by the presence of the tumor through biological products like hormones, peptides, autocrine or paracrine mediators, antibodies or cytotoxic lymphocytes. Of these, hypertrophic osteoarthropathy, carcinomatous polyarthritis, dermatomyositis/polymyositis, and paraneoplastic vasculitis are the most frequently recognized. Other less known associations are based upon a smaller number of case reports, and include palmar fasciitis, panniculitis, erythema nodosum, Raynaud¥s phenomenon, erythromelalgia and Lupus-like syndrome. Usually the clinical course of rheumatic paraneoplastic syndrome and cancer parallels the resolution of the tumor usually leads to resolution of this syndrome. It is difficult make the distinction between idiopathic rheumatic syndromes from those that result from cancer. Still, there are several clinical data that can guide us to the presence of an occult malignancy, and should be identified as the detection of cancer can lead to early treatment and better prognosis.

  16. Sturge-Weber syndrome.

    PubMed

    Comi, Anne M

    2015-01-01

    Sturge-Weber syndrome is the third most common neurocutaneous disorder, after neurofibromatosis and tuberous sclerosis, and impacts approximately 1 in 20000 live births. Sturge-Weber syndrome is not inherited, but rather occurs exclusively sporadically, in both males and females and in all races and ethnic backgrounds. Sturge-Weber syndrome presents at birth with a capillary malformation on the face (port-wine birthmark) with later diagnosis of abnormal vasculature in the eye and the brain which result in a range of complications. The underlying somatic mosaic mutation causing both Sturge-Weber syndrome and isolated port-wine birthmarks was recently discovered and is an activating mutation in GNAQ. When a newborn presents with a facial port-wine birthmark on the upper face, that child has a 15-50% risk of developing Sturge-Weber syndrome brain and/or eye involvement, depending on the extent of the birthmark, and close monitoring and appropriate screening is essential for early diagnosis and optimal treatment. Treatment options include laser therapy for lightening of the birthmark, eye drops and surgery for glaucoma management, and aggressive anticonvulsant treatment, low dose aspirin, and neurosurgery where necessary. Future possible treatments based upon new knowledge of the somatic mutation and downstream pathways are currently being considered and studied. PMID:26564078

  17. Epidermal nevus syndrome.

    PubMed

    Laura, Flores-Sarnat

    2013-01-01

    Epidermal nevus syndrome (ENS) is an inclusive term for a heterogeneous group of congenital disorders characterized by the presence of epidermal nevi associated with systemic involvement. These disorders, as are all primary neurocutaneous syndromes, are neurocristopathies. The epidermal nevi that follow the lines of Blaschko and most systemic anomalies in skeletal, ocular, cardiovascular, endocrine, and orodental tissues, as well as lipomas, are due to defective neural crest. The most important and frequent anomaly in the brain in all forms of epidermal nevus syndromes (ENSs) is hemimegalencephaly (HME). This malformation often is not recognized, despite being the principal cause of neurological manifestations in ENSs. They consist mainly of epilepsy and developmental delay or intellectual disability. The onset of epilepsy in ENS usually is in early infancy, often as infantile spasms. Several syndromic forms have been delineated. I propose the term "Heide's syndrome" for those distinctive cases with the typical triad of hemifacial epidermal nevus, ipsilateral facial lipoma, and hemimegalencephaly. Most ENSs are sporadic. The mechanism is thought to be genetic mosaicism with a lethal autosomal dominant gene. Specific genetic mutations (PTEN, FGFR3, PIK3CA, and AKT1) have been documented in some patients. The large number of contributors for over more than a century and a half to the description of these disorders precludes the use of new author eponyms.

  18. Complex regional pain syndrome.

    PubMed

    Bruehl, Stephen

    2015-07-29

    Complex regional pain syndrome is a chronic pain condition characterized by autonomic and inflammatory features. It occurs acutely in about 7% of patients who have limb fractures, limb surgery, or other injuries. Many cases resolve within the first year, with a smaller subset progressing to the chronic form. This transition is often paralleled by a change from "warm complex regional pain syndrome," with inflammatory characteristics dominant, to "cold complex regional pain syndrome" in which autonomic features dominate. Multiple peripheral and central mechanisms seem to be involved, the relative contributions of which may differ between individuals and over time. Possible contributors include peripheral and central sensitization, autonomic changes and sympatho-afferent coupling, inflammatory and immune alterations, brain changes, and genetic and psychological factors. The syndrome is diagnosed purely on the basis of clinical signs and symptoms. Effective management of the chronic form of the syndrome is often challenging. Few high quality randomized controlled trials are available to support the efficacy of the most commonly used interventions. Reviews of available randomized trials suggest that physical and occupational therapy (including graded motor imagery and mirror therapy), bisphosphonates, calcitonin, subanesthetic intravenous ketamine, free radical scavengers, oral corticosteroids, and spinal cord stimulation may be effective treatments. Multidisciplinary clinical care, which centers around functionally focused therapies is recommended. Other interventions are used to facilitate engagement in functional therapies and to improve quality of life.

  19. Management of Neuroacanthocytosis Syndromes

    PubMed Central

    Walker, Ruth H.

    2015-01-01

    Background The two core neuroacanthocytosis (NA) syndromes, chorea-acanthocytosis (ChAc) and McLeod syndrome, are progressive neurodegenerative disorders that primarily affect the basal ganglia. The characteristic phenotype comprises a variety of movement disorders including chorea, dystonia, and parkinsonism, as well as psychiatric and cognitive symptoms attributable to basal ganglia dysfunction. These disorders are symptomatically managed on a case-by-case basis, with very few practitioners seeing more than a single case in their careers. Methods A literature search was performed on PubMed utilizing the terms neuroacanthocytosis, chorea-acanthocytosis, and McLeod syndrome, and articles were reviewed for mentions of therapies, successful or otherwise. Results There have been no blinded, controlled trials and only one retrospective case series describing ChAc. The various therapies that have been used in patients with NA syndromes are summarized. Discussion Management remains at present purely symptomatic, which is similar in principle to other more common basal ganglia neurodegenerative disorders such as Huntington’s disease (HD) and Parkinson’s disease (PD). However, there are some specific issues particular to NA syndromes that merit attention. An integrated multidisciplinary approach is the ideal management strategy for these complex and multifaceted neurodegenerative disorders. PMID:26504667

  20. Fat embolism syndrome

    PubMed Central

    Richards, Robin R.

    1997-01-01

    Fat embolism syndrome, an important contributor to the development of acute respiratory distress syndrome, has been associated with both traumatic and nontraumatic disorders. Fat embolization after long bone trauma is probably common as a subclinical event. Fat emboli can deform and pass through the lungs, resulting in systemic embolization, most commonly to the brain and kidneys. The diagnosis of fat embolism syndrome is based on the patient’s history, supported by clinical signs of pulmonary, cerebral and cutaneous dysfunction and confirmed by the demonstration of arterial hypoxemia in the absence of other disorders. Treatment of fat embolism syndrome consists of general supportive measures, including splinting, maintenance of fluid and electrolyte balance and the administration of oxygen. Endotracheal intubation and mechanical ventilatory assistance can be indicated. The role of corticosteroids remains controversial. Early stabilization of long bone fractures has been shown to decrease the incidence of pulmonary complications. Clinical and experimental studies suggest that the exact method of fracture fixation plays a minor role in the development of pulmonary dysfunction. As more is learned about the specifics of the various triggers for the development of fat embolism syndrome, it is hoped that the prospect of more specific therapy for the prevention and treatment of this disorder will become a reality. PMID:9336522

  1. Treatment Option Overview (Myelodysplastic Syndromes)

    MedlinePlus

    ... Patient Myelo-proliferative Neoplasms Patient Myelodysplastic Syndromes Treatment Myeloproliferative Neoplasms Treatment Myelodysplastic/ Myeloproliferative Neoplasms Treatment Health Professional Myelodysplastic ...

  2. Treatment Options for Myelodysplastic Syndromes

    MedlinePlus

    ... Patient Myelo-proliferative Neoplasms Patient Myelodysplastic Syndromes Treatment Myeloproliferative Neoplasms Treatment Myelodysplastic/ Myeloproliferative Neoplasms Treatment Health Professional Myelodysplastic ...

  3. General Information about Myelodysplastic Syndromes

    MedlinePlus

    ... Patient Myelo-proliferative Neoplasms Patient Myelodysplastic Syndromes Treatment Myeloproliferative Neoplasms Treatment Myelodysplastic/ Myeloproliferative Neoplasms Treatment Health Professional Myelodysplastic ...

  4. Syndrome by Any Other Name. . .

    ERIC Educational Resources Information Center

    Bowers, Drew

    2008-01-01

    The word "syndrome" is one of those words that has slipped into one's vocabulary with few realizing what exactly it means or all the implications it carries. The word "syndrome" can be defined as "a group of signs and symptoms that occur together and characterize a particular abnormality or condition." Typically, a syndrome will be defined by…

  5. Down Syndrome. ERIC Digest #457.

    ERIC Educational Resources Information Center

    Manfredini, Dianne

    This information sheet briefly describes the history of the identification of Down Syndrome, its prenatal diagnosis, characteristics of individuals with Down Syndrome, its causes, its rate of occurrence and recurrence, its impact on child development, and recommended content of education programs for children with Down Syndrome. A list of seven…

  6. An Overview of Down Syndrome.

    ERIC Educational Resources Information Center

    Pueschel, Siegfried M.

    This booklet presents information regarding the history, incidence, and effects of Down Syndrome. The first chapter, presenting an historical perspective of the condition, provides information on counseling parents of Down Syndrome children, and the chromosome structures seen in Down Syndrome patients. The next chapter discusses medical aspects in…

  7. Genetic Syndromes Associated with Craniosynostosis.

    PubMed

    Ko, Jung Min

    2016-05-01

    Craniosynostosis is defined as the premature fusion of one or more of the cranial sutures. It leads not only to secondary distortion of skull shape but to various complications including neurologic, ophthalmic and respiratory dysfunction. Craniosynostosis is very heterogeneous in terms of its causes, presentation, and management. Both environmental factors and genetic factors are associated with development of craniosynostosis. Nonsyndromic craniosynostosis accounts for more than 70% of all cases. Syndromic craniosynostosis with a certain genetic cause is more likely to involve multiple sutures or bilateral coronal sutures. FGFR2, FGFR3, FGFR1, TWIST1 and EFNB1 genes are major causative genes of genetic syndromes associated with craniosynostosis. Although most of syndromic craniosynostosis show autosomal dominant inheritance, approximately half of patients are de novo cases. Apert syndrome, Pfeiffer syndrome, Crouzon syndrome, and Antley-Bixler syndrome are related to mutations in FGFR family (especially in FGFR2), and mutations in FGFRs can be overlapped between different syndromes. Saethre-Chotzen syndrome, Muenke syndrome, and craniofrontonasal syndrome are representative disorders showing isolated coronal suture involvement. Compared to the other types of craniosynostosis, single gene mutations can be more frequently detected, in one-third of coronal synostosis patients. Molecular diagnosis can be helpful to provide adequate genetic counseling and guidance for patients with syndromic craniosynostosis.

  8. Down Syndrome Is for Life.

    ERIC Educational Resources Information Center

    Stratford, Brian

    1994-01-01

    This paper presents Down's syndrome as a part of the human race's rich biological inheritance rather than a condition to be pitied. The history of the discovery of the biological basis of Down's syndrome is reviewed, along with attitudes toward individuals with Down's syndrome over time and developments in medicine and education. (JDD)

  9. Down Syndrome: A Cardiovascular Perspective

    ERIC Educational Resources Information Center

    Vis, J. C.; Duffels, M. G. J.; Winter, M. M.; Weijerman, M. E.; Cobben, J. M.; Huisman, S. A.; Mulder, B. J. M.

    2009-01-01

    This review focuses on the heart and vascular system in patients with Down syndrome. A clear knowledge on the wide spectrum of various abnormalities associated with this syndrome is essential for skillful management of cardiac problems in patients with Down syndrome. Epidemiology of congenital heart defects, cardiovascular aspects and…

  10. A Journey with Klinefelter Syndrome

    ERIC Educational Resources Information Center

    Cover, Virginia Isaacs

    2006-01-01

    In this article, the author shares her experience having a son with Klinefelter Syndrome. Klinefelter Syndrome, also known as 47,XXY, is estimated to occur in 1 out of 600 males, making it the most common chromosomal disorder. Babies with Klinefelter Syndrome rarely have any physical differences that are detectable, which is the reason that so few…

  11. Genetic Syndromes Associated with Craniosynostosis.

    PubMed

    Ko, Jung Min

    2016-05-01

    Craniosynostosis is defined as the premature fusion of one or more of the cranial sutures. It leads not only to secondary distortion of skull shape but to various complications including neurologic, ophthalmic and respiratory dysfunction. Craniosynostosis is very heterogeneous in terms of its causes, presentation, and management. Both environmental factors and genetic factors are associated with development of craniosynostosis. Nonsyndromic craniosynostosis accounts for more than 70% of all cases. Syndromic craniosynostosis with a certain genetic cause is more likely to involve multiple sutures or bilateral coronal sutures. FGFR2, FGFR3, FGFR1, TWIST1 and EFNB1 genes are major causative genes of genetic syndromes associated with craniosynostosis. Although most of syndromic craniosynostosis show autosomal dominant inheritance, approximately half of patients are de novo cases. Apert syndrome, Pfeiffer syndrome, Crouzon syndrome, and Antley-Bixler syndrome are related to mutations in FGFR family (especially in FGFR2), and mutations in FGFRs can be overlapped between different syndromes. Saethre-Chotzen syndrome, Muenke syndrome, and craniofrontonasal syndrome are representative disorders showing isolated coronal suture involvement. Compared to the other types of craniosynostosis, single gene mutations can be more frequently detected, in one-third of coronal synostosis patients. Molecular diagnosis can be helpful to provide adequate genetic counseling and guidance for patients with syndromic craniosynostosis. PMID:27226847

  12. Genetic Syndromes Associated with Craniosynostosis

    PubMed Central

    2016-01-01

    Craniosynostosis is defined as the premature fusion of one or more of the cranial sutures. It leads not only to secondary distortion of skull shape but to various complications including neurologic, ophthalmic and respiratory dysfunction. Craniosynostosis is very heterogeneous in terms of its causes, presentation, and management. Both environmental factors and genetic factors are associated with development of craniosynostosis. Nonsyndromic craniosynostosis accounts for more than 70% of all cases. Syndromic craniosynostosis with a certain genetic cause is more likely to involve multiple sutures or bilateral coronal sutures. FGFR2, FGFR3, FGFR1, TWIST1 and EFNB1 genes are major causative genes of genetic syndromes associated with craniosynostosis. Although most of syndromic craniosynostosis show autosomal dominant inheritance, approximately half of patients are de novo cases. Apert syndrome, Pfeiffer syndrome, Crouzon syndrome, and Antley-Bixler syndrome are related to mutations in FGFR family (especially in FGFR2), and mutations in FGFRs can be overlapped between different syndromes. Saethre-Chotzen syndrome, Muenke syndrome, and craniofrontonasal syndrome are representative disorders showing isolated coronal suture involvement. Compared to the other types of craniosynostosis, single gene mutations can be more frequently detected, in one-third of coronal synostosis patients. Molecular diagnosis can be helpful to provide adequate genetic counseling and guidance for patients with syndromic craniosynostosis. PMID:27226847

  13. Urinary Peptides in Rett Syndrome.

    ERIC Educational Resources Information Center

    Solaas, K. M.; Skjeldal, O.; Gardner, M. L. G.; Kase, B. F.; Reichelt, K. L.

    2002-01-01

    A study found a significantly higher level of peptides in the urine of 53 girls with Rett syndrome compared with controls. The elevation was similar to that in 35 girls with infantile autism. Levels of peptides were lower in girls with classic Rett syndrome than those with congenital Rett syndrome. (Contains references.) (Author/CR)

  14. Inherited Colorectal Cancer Syndromes

    PubMed Central

    Kastrinos, Fay; Syngal, Sapna

    2011-01-01

    Colorectal cancer is the most common gastrointestinal malignancy and the second leading cause of cancer death in both men and women in the United States. Most colorectal cancer cases diagnosed annually are due to sporadic events but up to 5% are attributed to known monogenic disorders including Lynch syndrome, Familial Adenomatous Polyposis, MYH-associated polyposis, and the rare hamartomatous polyposis syndromes. These inherited colorectal cancer syndromes confer a markedly increased risk for the development of multiple cancers and predictive genetic testing is available to identify mutation carriers and at-risk family members. Through personalized strategies for diagnosis and management, a substantial reduction in morbidity and mortality has been appreciated among patients at highest risk for the development of colorectal cancer. PMID:22157284

  15. Joint hypermobility syndrome pain.

    PubMed

    Grahame, Rodney

    2009-12-01

    Joint hypermobility syndrome (JHS) was initially defined as the occurrence of musculoskeletal symptoms in the presence of joint laxity and hypermobility in otherwise healthy individuals. It is now perceived as a commonly overlooked, underdiagnosed, multifaceted, and multisystemic heritable disorder of connective tissue (HDCT), which shares many of the phenotypic features of other HDCTs such as Marfan syndrome and Ehlers-Danlos syndrome. Whereas the additional flexibility can confer benefits in terms of mobility and agility, adverse effects of tissue laxity and fragility can give rise to clinical consequences that resonate far beyond the confines of the musculoskeletal system. There is hardly a clinical specialty to be found that is not touched in one way or another by JHS. Over the past decade, it has become evident that of all the complications that may arise in JHS, chronic pain is arguably the most menacing and difficult to treat. PMID:19889283

  16. Loin pain hematuria syndrome

    PubMed Central

    Zubair, Adeel S.; Salameh, Hassan; Erickson, Stephen B.; Prieto, Mikel

    2016-01-01

    Loin pain hematuria syndrome (LPHS), first described in 1967, is a rare pain syndrome, which is not well understood. The syndrome is characterized by severe intermittent or persistent flank pain, either unilateral or bilateral, associated with gross or microscopic hematuria. LPHS is a diagnosis of exclusion as there still is not a consensus of validated diagnostic criteria, though several criteria have been proposed. The wide differential diagnosis would suggest a meticulous yet specific diagnostic work-up depending on the individual clinical features and natural history. Several mechanisms regarding the pathophysiology of LPHS have been proposed but without pinpointing the actual causative etiology, the treatment remains symptomatic. Treatment modalities for LPHS are diverse including simple analgesia, opioid analgesic and kidney autotransplantation. This review article summarizes the current understanding regarding the pathophysiology of LPHS along with the steps required for proper diagnosis and a discussion of the different therapeutic approaches for LPHS. PMID:26798473

  17. Obstetric antiphospholipid syndrome.

    PubMed

    Esteve-Valverde, E; Ferrer-Oliveras, R; Alijotas-Reig, J

    2016-04-01

    Obstetric antiphospholipid syndrome is an acquired autoimmune disorder that is associated with various obstetric complications and, in the absence of prior history of thrombosis, with the presence of antiphospholipid antibodies directed against other phospholipids, proteins called cofactors or PL-cofactor complexes. Although the obstetric complications have been related to the procoagulant properties of antiphospholipid antibodies, pathological studies of human placenta have shown the proinflammatory capacity of antiphospholipid antibodies via the complement system and proinflammatory cytokines. There is no general agreement on which antiphospholipid antibodies profile (laboratory) confers the greatest obstetric risk, but the best candidates are categories I and IIa. Combined treatment with low doses of aspirin and heparin achieves good obstetric and maternal outcomes. In this study, we also review the therapeutic possibilities in refractory cases, although the likelihood of progressing to other autoimmune diseases is low. We briefly comment on incomplete obstetric antiphospholipid syndrome, also known as antiphospholipid antibody-mediated pregnancy morbidity syndrome. PMID:26603476

  18. Loin pain hematuria syndrome.

    PubMed

    Zubair, Adeel S; Salameh, Hassan; Erickson, Stephen B; Prieto, Mikel

    2016-02-01

    Loin pain hematuria syndrome (LPHS), first described in 1967, is a rare pain syndrome, which is not well understood. The syndrome is characterized by severe intermittent or persistent flank pain, either unilateral or bilateral, associated with gross or microscopic hematuria. LPHS is a diagnosis of exclusion as there still is not a consensus of validated diagnostic criteria, though several criteria have been proposed. The wide differential diagnosis would suggest a meticulous yet specific diagnostic work-up depending on the individual clinical features and natural history. Several mechanisms regarding the pathophysiology of LPHS have been proposed but without pinpointing the actual causative etiology, the treatment remains symptomatic. Treatment modalities for LPHS are diverse including simple analgesia, opioid analgesic and kidney autotransplantation. This review article summarizes the current understanding regarding the pathophysiology of LPHS along with the steps required for proper diagnosis and a discussion of the different therapeutic approaches for LPHS. PMID:26798473

  19. Growth in Sotos syndrome.

    PubMed

    Agwu, J C; Shaw, N J; Kirk, J; Chapman, S; Ravine, D; Cole, T R

    1999-04-01

    Although there are several reports on infant and childhood growth in patients with Sotos syndrome, there is little information on the final height achieved and puberty. Growth data on 40 patients (20 female and 20 male) aged 2-31 years were collected. These showed that patients with Sotos syndrome are excessively tall at birth, during infancy, and during childhood. Disproportionately long limbs constitute much of the increase in stature. However, the combination of advanced bone age and early onset of menarche led to a mean (SD) final height of 172.9 (5.7) cm in women. This is within the normal range for the population. Most of the men also attained a final height (mean, 184.3 cm; SD, 6.0) within the normal range, although exceptions were more likely in men than in women. Therefore, these results show that most patients with Sotos syndrome do not require intervention to limit their adult height. PMID:10086939

  20. [Os trigonum syndrome].

    PubMed

    Bruns, J; Eggers-Ströder, G

    1991-09-01

    The os trigonum is one of the most frequent accessory bones of the foot. It is located dorsal of the talus. Os trigonum syndrome means a typical pain syndrome localized in the back-foot caused by this ossicle. This syndrome occurs mostly in man with sports activities accompanied with intensive stress to different parts of the foot. It can be caused particularly by standing on the toe in the "en-pointe-position" in ballet dancers when the flexor hallucis tendon is under maximal tension or by activities accompanied with maximal plan-tarflexion in soccer players for instance. Typical complaints, findings and different therapeutic procedures are demonstrated in two cases. Therapy includes different non-operative methods. Resistance to non-operative procedures is indication for operative therapy. Excision of this ossicle is surgical therapy of first choice.

  1. Hemolytic uremic syndrome

    PubMed Central

    Canpolat, Nur

    2015-01-01

    Hemolytic uremic syndrome (HUS) is a clinical syndrome characterized by the triad of thrombotic microangiopathy, thrombocytopenia, and acute kidney injury. Hemolytic uremic syndrome represents a heterogeneous group of disorders with variable etiologies that result in differences in presentation, management and outcome. In recent years, better understanding of the HUS, especially those due to genetic mutations in the alternative complement pathway have provided an update on the terminology, classification, and treatment of the disease. This review will provide the updated classification of the disease and the current diagnostic and therapeutic approaches on the complement-mediated HUS in addition to STEC-HUS which is the most common cause of the HUS in childhood. PMID:26265890

  2. Marfan syndrome: current perspectives

    PubMed Central

    Pepe, Guglielmina; Giusti, Betti; Sticchi, Elena; Abbate, Rosanna; Gensini, Gian Franco; Nistri, Stefano

    2016-01-01

    Marfan syndrome (MFS) is a pleiotropic connective tissue disease inherited as an autosomal dominant trait, due to mutations in the FBN1 gene encoding fibrillin 1. It is an important protein of the extracellular matrix that contributes to the final structure of a microfibril. Few cases displaying an autosomal recessive transmission are reported in the world. The FBN1 gene, which is made of 66 exons, is located on chromosome 15q21.1. This review, after an introduction on the clinical manifestations that leads to the diagnosis of MFS, focuses on cardiovascular manifestations, pharmacological and surgical therapies of thoracic aortic aneurysm and/or dissection (TAAD), mechanisms underlying the progression of aneurysm or of acute dissection, and biomarkers associated with progression of TAADs. A Dutch group compared treatment with losartan, an angiotensin II receptor-1 blocker, vs no other additional treatment (COMPARE clinical trial). They observed that losartan reduces the aortic dilatation rate in patients with Marfan syndrome. Later on, they also reported that losartan exerts a beneficial effect on patients with Marfan syndrome carrying an FBN1 mutation that causes haploinsufficiency (quantitative mutation), while it has no significant effect on patients displaying dominant negative (qualitative) mutations. Moreover, a French group in a 3-year trial compared the administration of losartan vs placebo in patients with Marfan syndrome under treatment with beta-receptor blockers. They observed that losartan decreases blood pressure but has no effect on aortic diameter progression. Thus, beta-receptor blockers remain the gold standard therapy in patients with Marfan syndrome. Three potential biochemical markers are mentioned in this review: total homocysteine, serum transforming growth factor beta, and lysyl oxidase. Moreover, markers of oxidative stress measured in plasma, previously correlated with clinical features of Marfan syndrome, may be explored as potential

  3. Asperger syndrome revisited.

    PubMed

    Baskin, Joseph H; Sperber, Michael; Price, Bruce H

    2006-01-01

    Asperger syndrome (AS) is a disorder on the continuum of autistic spectrum disorders characterized by a lack of social reciprocity and empathy, and severe difficulties in social integration. Controversy remains as to what constitutes AS and whether it should be declared a separate disease or higher-functioning autism. This review discusses the contributions made by Hans Asperger and Leo Kanner in first delineating the condition, and examines the syndrome's incidence, prevalence, and etiologies. Recent studies using neuroimaging are described, along with current diagnostic and treatment options.

  4. [Neuroleptic induced deficit syndrome].

    PubMed

    Szafrański, T

    1995-01-01

    Increasing interest in subjective aspects of therapy and rehabilitation focused the attention of psychiatrists, psychologists and psychopharmacologists on the mental side effects of neuroleptics. For the drug-related impairment of affective, cognitive and social function the name of neuroleptic-induced deficit syndrome (NIDS) is proposed. Patients with NIDS appear to be indifferent to the environmental stimuli, retarded and apathetic. They complain of feeling drugged and drowsy, weird, they suffer from lack of motivation, feel like "zombies". The paper presents description of NIDS and its differentiation from negative and depressive symptoms in schizophrenia and subjective perceiving of extrapyramidal syndromes.

  5. Burning Mouth Syndrome.

    PubMed

    Klasser, Gary D; Grushka, Miriam; Su, Nan

    2016-08-01

    Burning mouth syndrome (BMS) is an enigmatic, misunderstood, and under-recognized painful condition. Symptoms associated with BMS can be varied, thereby providing a challenge for practitioners and having a negative impact on oral health-related quality of life for patients. Management also remains a challenge for practitioners because it is currently only targeted for symptom relief without a definitive cure. There is an urgent need for further investigations to determine the efficacy of different therapies because this is the only way viable therapeutic options can be established for patients with this chronic and painful syndrome. PMID:27475513

  6. [Neuroleptic induced deficit syndrome].

    PubMed

    Szafrański, T

    1995-01-01

    Increasing interest in subjective aspects of therapy and rehabilitation focused the attention of psychiatrists, psychologists and psychopharmacologists on the mental side effects of neuroleptics. For the drug-related impairment of affective, cognitive and social function the name of neuroleptic-induced deficit syndrome (NIDS) is proposed. Patients with NIDS appear to be indifferent to the environmental stimuli, retarded and apathetic. They complain of feeling drugged and drowsy, weird, they suffer from lack of motivation, feel like "zombies". The paper presents description of NIDS and its differentiation from negative and depressive symptoms in schizophrenia and subjective perceiving of extrapyramidal syndromes. PMID:7652089

  7. The Dubois syndrome.

    PubMed

    Caspari, Rachel; Wolpoff, Milford H

    2012-01-01

    The modem scientific method relies on falsification of large, overarching explanatory hypotheses, but refutation at any level is not easily accepted, nor should it necessarily be. Here we discuss the "Dubois syndrome," based on the history of Eugène Dubois, famous for the discovery and interpretation of Pithecanthropus erectus. Widely viewed as unbalanced for his changing understanding of these important fossils, we discuss how his apparent capriciousness was actually a rational conclusion based on his adherence to a broad evolutionary theory. Examples of the Dubois syndrome are common, perhaps especially so in paleoanthropology because the database, even many years later, is small. PMID:23272593

  8. Polycystic ovary syndrome.

    PubMed

    Siegel, S F; Lee, P A

    1993-08-01

    Polycystic ovary syndrome, characterized by hyperandrogenism and menstrual irregularities, is a heterogeneous group of disorders that can disrupt normal hypothalamic-pituitary-ovarian function. Ovarian physiology is reviewed with regard to possible etiologies for excessive androgen secretion. Similar features may be present in errors in steroidogenesis, hyperprolactinemia, androgen-secreting tumors, and Cushing's syndrome. Analysis of the interrelationships between the reproductive axis and carbohydrate metabolism suggests that the associated insulin resistance can induce hyperandrogenism. Improved understanding of the various etiologies may expand the therapeutic options for patients.

  9. Anticonvulsant hypersensitivity syndrome.

    PubMed

    Morkunas, A R; Miller, M B

    1997-10-01

    Anticonvulsant hypersensitivity syndrome (AHS) is an uncommon but potentially fatal adverse effect that can occur from exposure to phenytoin, carbamazepine, or phenobarbital. It has diverse clinical features and a variable presentation which results in a delay in making the diagnosis. The syndrome commonly begins within 3 weeks after initiation of an anticonvulsant. Patients typically present with a constellation of fever, usually followed by the development of a rash of variable severity and type, and lymphadenopathy. In patients presenting with these features, the clinician should have a high index of suspicion for AHS. PMID:9330838

  10. [DRESS syndrome to sulfasalzine].

    PubMed

    Bourguignon, R; Piérrard-Franchimont, C; Paquet, P; Piérard, G E

    2006-09-01

    We report a case of drug hypersensibility syndrome (DRESS syndrome) developed one month after initiation of a treatment by sulfasalazine. Due to the severity of the cytolytic hepatic damages as observed in this case, we emphasize the importance of suggesting this diagnosis in any patient developing a cutaneous rash and an alteration of the general health status after initiation of a new treatment. The hematologic alterations which represent a key feature for the diagnosis may rash. develop only a few days after the cutaneous rash. PMID:17112165

  11. Neonatal opioid withdrawal syndrome.

    PubMed

    Sutter, Mary Beth; Leeman, Lawrence; Hsi, Andrew

    2014-06-01

    Neonatal opioid withdrawal syndrome is common due to the current opioid addiction epidemic. Infants born to women covertly abusing prescription opioids may not be identified as at risk until withdrawal signs present. Buprenorphine is a newer treatment for maternal opioid addiction and appears to result in a milder withdrawal syndrome than methadone. Initial treatment is with nonpharmacological measures including decreasing stimuli, however pharmacological treatment is commonly required. Opioid monotherapy is preferred, with phenobarbital or clonidine uncommonly needed as adjunctive therapy. Rooming-in and breastfeeding may decease the severity of withdrawal. Limited evidence is available regarding long-term effects of perinatal opioid exposure.

  12. Alagille syndrome: clinical perspectives.

    PubMed

    Saleh, Maha; Kamath, Binita M; Chitayat, David

    2016-01-01

    Alagille syndrome is an autosomal dominant, complex multisystem disorder characterized by the presence of three out of five major clinical criteria: cholestasis with bile duct paucity on liver biopsy, congenital cardiac defects (with particular involvement of the pulmonary arteries), posterior embryotoxon in the eye, characteristic facial features, and butterfly vertebrae. Renal and vascular abnormalities can also occur. Inter- and intrafamilial variabilities in the clinical manifestations are common. We reviewed the clinical features and management as well as the molecular basis of Alagille syndrome. PMID:27418850

  13. Ramsay Hunt syndrome

    PubMed Central

    Sweeney, C; Gilden, D

    2001-01-01

    The strict definition of the Ramsay Hunt syndrome is peripheral facial nerve palsy accompanied by an erythematous vesicular rash on the ear (zoster oticus) or in the mouth. J Ramsay Hunt, who described various clinical presentations of facial paralysis and rash, also recognised other frequent symptoms and signs such as tinnitus, hearing loss, nausea, vomiting, vertigo, and nystagmus. He explained these eighth nerve features by the close proximity of the geniculate ganglion to the vestibulocochlear nerve within the bony facial canal. Hunt's analysis of clinical variations of the syndrome now bearing his name led to his recognition of the general somatic sensory function of the facial nerve and his defining of the geniculate zone of the ear. It is now known that varicella zoster virus (VZV) causes Ramsay Hunt syndrome.
 Compared with Bell's palsy (facial paralysis without rash), patients with Ramsay Hunt syndrome often have more severe paralysis at onset and are less likely to recover completely. Studies suggest that treatment with prednisone and acyclovir may improve outcome, although a prospective randomised treatment trial remains to be undertaken. In the only prospective study of patients with Ramsay Hunt syndrome, 14% developed vesicles after the onset of facial weakness. Thus, Ramsay Hunt syndrome may initially be indistinguishable from Bell's palsy. Further, Bell's palsy is significantly associated with herpes simplex virus (HSV) infection. In the light of the known safety and effectiveness of antiviral drugs against VZV or HSV, consideration should be given to early treatment of all patients with Ramsay Hunt syndrome or Bell's palsy with a 7-10 day course of famciclovir (500 mg, three times daily) or acyclovir (800 mg, five times daily), as well as oral prednisone (60 mg daily for 3-5 days).
 Finally, some patients develop peripheral facial paralysis without ear or mouth rash, associated with either a fourfold rise in antibody to VZV or the presence of

  14. Parry-Romberg syndrome

    PubMed Central

    Aydın, Hasan; Yologlu, Zeynel; Sargın, Husamettin; Metin, Melike Rusen

    2015-01-01

    Progressive hemifacial atrophy also known as Parry-Romberg syndrome is an acquired, slowly progressive disorder, occurring more in women, primarily affecting one side of the face, mainly characterized by unilateral atrophy, and loss of skin and subcutaneous tissues of face, muscles, and bones. Ocular and neurologic involvements are common. The possible etiology is unclear without any known cure. We report a rare case of Parry-Romberg syndrome with classical features. The clinical features, radiological imaging findings, differential diagnosis, and available treatment options are discussed in this report. PMID:26492117

  15. Alagille syndrome: clinical perspectives

    PubMed Central

    Saleh, Maha; Kamath, Binita M; Chitayat, David

    2016-01-01

    Alagille syndrome is an autosomal dominant, complex multisystem disorder characterized by the presence of three out of five major clinical criteria: cholestasis with bile duct paucity on liver biopsy, congenital cardiac defects (with particular involvement of the pulmonary arteries), posterior embryotoxon in the eye, characteristic facial features, and butterfly vertebrae. Renal and vascular abnormalities can also occur. Inter- and intrafamilial variabilities in the clinical manifestations are common. We reviewed the clinical features and management as well as the molecular basis of Alagille syndrome. PMID:27418850

  16. Pathogenesis of Tourette's syndrome.

    PubMed

    Leckman, J F; Peterson, B S; Anderson, G M; Arnsten, A F; Pauls, D L; Cohen, D J

    1997-01-01

    This review presents a models of disease pathogenesis in the context of CNS development. It begins with an exploration of the clinical features and natural history of Tourette's syndrome. This is followed by a consideration of the role of genetic and nongenetic factors. An effort is then made to review the anatomical organization of the basal ganglia and related cortical sites. These circuits are intimately involved in the normal processing of sensorimotor, cognitive, and emotionally laden information. Evidence implicating these circuits in the pathobiology of Tourette's syndrome is then considered. The review closes with the prospects for advances in interdisciplinary research and therapeutics using this model as a guide.

  17. Wernicke-Korsakoff syndrome.

    PubMed Central

    Zubaran, C.; Fernandes, J. G.; Rodnight, R.

    1997-01-01

    Alcohol abuse is one of the most serious problems in public health and the Wernicke-Korsakoff syndrome is one of the gravest consequences of alcoholism. The pathology is often undiagnosed in its less evident presentations, therefore an accurate diagnostic approach is a critical step in treatment planning. Treatment is based on restoration of thiamine, although this is insufficient to prevent the psychological decline of a great number of patients. The cognitive impact of the pathology is derived from the interaction of alcoholic neurotoxicity, thiamine deficiency and personal susceptibility. In this article, the literature concerning Wernicke-Korsakoff syndrome is reviewed. Images p31-a PMID:9039406

  18. Heritable Gastrointestinal Cancer Syndromes.

    PubMed

    Stoffel, Elena M

    2016-09-01

    Although almost all gastrointestinal cancers develop from sporadic genomic events, approximately 5% arise from germline mutations in genes associated with cancer predisposition. The number of these genes continues to increase. Tumor phenotypes and family history provide the framework for identifying at-risk individuals. The diagnosis of a hereditary cancer syndrome has implications for management of patients and their families. Systematic approaches that integrate family history and molecular characterization of tumors and polyps facilitate identification of individuals with this genetic predisposition. This article summarizes diagnosis and management of hereditary cancer syndromes associated with gastrointestinal cancers. PMID:27546846

  19. Treacher Collins Syndrome

    PubMed Central

    Chang, Christopher C.; Steinbacher, Derek M.

    2012-01-01

    Treacher Collins syndrome is a genetic disorder resulting in congenital craniofacial malformation. Patients typically present with downslanting palpebral fissures, lower eyelid colobomas, microtia, and malar and mandibular hypoplasia. This autosomal dominant disorder has a variable degree of phenotypic expression, and patients have no associated developmental delay or neurologic disease. Care for these patients requires a multidisciplinary team from birth through adulthood. Proper planning, counseling and surgical techniques are essential for optimizing patient outcomes. Here the authors review the features, genetics, and treatment of Treacher Collins syndrome. PMID:23633935

  20. Patellofemoral pain syndrome.

    PubMed

    Collado, Hervé; Fredericson, Michael

    2010-07-01

    Patellofemoral pain (PFP) syndrome is a frequently encountered overuse disorder that involves the patellofemoral region and often presents as anterior knee pain. PFP can be difficult to diagnose. Not only do the etiology, diagnosis, and treatment remain challenging, but the terminology used to describe PFP is used inconsistently and can be confusing. Patellofemoral pain syndrome (PFPS) seems to be multifactorial, resulting from a complex interaction among intrinsic anatomic and external training factors. Although clinicians frequently make the diagnosis of PFPS, no consensus exists about its etiology or the factors most responsible for causing pain. This article discusses the pathophysiology, diagnosis, and management of PFP.

  1. Syndrome in question*

    PubMed Central

    Rebellato, Priscila Regina Orso; Rezende, Camila Makino; Battaglin, Eveline Roesler; de Lima, Brunno Zeni; Fillus Neto, Jose

    2015-01-01

    Morbihan Syndrome is a rare entity with unknown etiology. It is clinically characterized by chronic erythematous edema on the face - especially in the middle and upper third of the face - and creates abnormal facial contours that are initially intermitent but become permanent with the development of the syndrome. The histopathology is nonspecific and its therapy is a major challenge due to poor response to the various treatment options. We present the case of a male patient with a five-month-history of disease. PMID:26734879

  2. Plummer-Vinson syndrome.

    PubMed

    Atmatzidis, K; Papaziogas, B; Pavlidis, T; Mirelis, Ch; Papaziogas, T

    2003-01-01

    Plummer-Vinson syndrome is characterized by dysphagia, iron deficiency, anemia and the presence of esophageal web or webs. Two cases of this syndrome are reported in middle-aged women, which were treated over the last eight years. Both patients presented with dysphagia, anemia, sideropenia, glossitis and cheilitis. Radiological examination of the pharynx showed the presence of webs in both cases. The patients were treated with iron supplementation, which resulted in elimination of the symptoms. Both patients remain in good general condition and without any dysphagic complaints, 5 and 8 years after the diagnosis, respectively.

  3. Recognizing Battered Wife Syndrome

    PubMed Central

    Swanson, Richard W.

    1985-01-01

    Battered wife syndrome is difficult to detect because the women usually do not volunteer the diagnosis. They often present with vague somatic complaints such as headache, lower back pain, abdominal pain, pelvic pain and dyspareunia. Four case histories demonstrate the difficulty in recognizing the cause of these complaints. The diagnosis was often missed because straight-forward, non-threatening, open-ended questions were not asked initially. The family physician's primary role is to identify the syndrome and initiate psychotherapy. Psychotherapy is centred on reversing “learned helplessness” and developing a new self-concept. This can be enhanced by an interval or transition house. PMID:21274067

  4. Iliotibial band friction syndrome.

    PubMed

    Kirk, K L; Kuklo, T; Klemme, W

    2000-11-01

    Overuse knee injuries are common, but ITBFS is often overlooked as a cause of lateral knee pain in an active population. Iliotibial band friction syndrome is an overuse injury usually seen in long distance runners, cyclists, and military personnel. The exact incidence of the syndrome has been estimated to range from 1.6%-52% depending on the population studied. The diagnosis is often made from a thorough history and clinical examination with an infrequent need for additional studies. Treatment is mostly conservative consisting of rest and anti-inflammatory agents, with only the refractory cases requiring surgical resection of the impinging portion of the ITB.

  5. Treacher collins syndrome.

    PubMed

    Chang, Christopher C; Steinbacher, Derek M

    2012-05-01

    Treacher Collins syndrome is a genetic disorder resulting in congenital craniofacial malformation. Patients typically present with downslanting palpebral fissures, lower eyelid colobomas, microtia, and malar and mandibular hypoplasia. This autosomal dominant disorder has a variable degree of phenotypic expression, and patients have no associated developmental delay or neurologic disease. Care for these patients requires a multidisciplinary team from birth through adulthood. Proper planning, counseling and surgical techniques are essential for optimizing patient outcomes. Here the authors review the features, genetics, and treatment of Treacher Collins syndrome.

  6. Syndrome in question.

    PubMed

    Rebellato, Priscila Regina Orso; Rezende, Camila Makino; Battaglin, Eveline Roesler; Lima, Brunno Zeni de; Fillus Neto, Jose

    2015-01-01

    Morbihan Syndrome is a rare entity with unknown etiology. It is clinically characterized by chronic erythematous edema on the face - especially in the middle and upper third of the face - and creates abnormal facial contours that are initially intermitent but become permanent with the development of the syndrome. The histopathology is nonspecific and its therapy is a major challenge due to poor response to the various treatment options. We present the case of a male patient with a five-month-history of disease. PMID:26734879

  7. Syndrome in question*

    PubMed Central

    Pousa, Catharina Maria Freire de Lucena; Lavorato, Fernanda Guedes; Rehfeldt, Fernanda Valente; Mann, Danielle; Alves, Maria de Fátima Gonçalves Scotelaro

    2015-01-01

    Muir-Torre syndrome is a rare genodermatosis characterized by the occurrence of at least one sebaceous tumor associated with visceral neoplasia, but with no predisposing factors. The sebaceous neoplasm may appear before, during or after the diagnosis of colorectal cancer. As it is regarded as a subtype of nonpolyposis hereditary colorectal cancer, it is important to evaluate the patient's first-degree relatives. The clinical course of the neoplasm is usually more indolent and the syndrome has a good prognosis. We report the case of a patient who, after a ten-year diagnosis of colorectal cancer, presented with multiple sebaceous neoplasms. PMID:26560227

  8. Syndrome in Question*

    PubMed Central

    Tonolli, Vanessa Mello; Stolf, Hamilton Ometto; Tonello, Cláudio Sampieri; Pires, Rafaelle Batistella; Abbade, Luciana Patricia Fernandes

    2014-01-01

    Hay-Wells syndrome or AEC (Ankyloblepharon, Ectodermal dysplasia and Cleft lip and palate syndrome) is a rare ectodermal disorder. The treatment is aimed to prevent clinical complications. We describe the case of a four-month old male patient with erosions on the scalp, trunk and arms, trachyonychia, deformity of the ears, micropenis, cleft palate, decreased eyebrow and eyelash hairs, in addition to antecedents of surgical correction of ankyloblepharon. The importance of the correct diagnosis is emphasized, besides the investigation of the associated diseases, treatment of complications and genetic counseling of the parents. PMID:24770526

  9. Acute extremity compartment syndrome.

    PubMed

    Tumbarello, C

    2000-01-01

    Acute Extremity Compartment Syndrome is a disorder, which can cause loss of limb if left untreated. Compartment syndrome develops when pressures within the fascial compartments become elevated, resulting in decreased perfusion to muscles and nerves. Left untreated, tissue death occurs. Rapid identification of clinical signs can decrease severity of symptoms. Diligent nursing assessment and monitoring of clinical signs, with communication to the physician, will facilitate rapid treatment by the physician. The primary treatment option is early identification and intervention through performance of a fasciotomy.

  10. West syndrome in a patient with Schinzel-Giedion syndrome.

    PubMed

    Miyake, Fuyu; Kuroda, Yukiko; Naruto, Takuya; Ohashi, Ikuko; Takano, Kyoko; Kurosawa, Kenji

    2015-06-01

    Schinzel-Giedion syndrome is a rare recognizable malformation syndrome defined by characteristic facial features, profound developmental delay, severe growth failure, and multiple congenital anomalies. The causative gene of Schinzel-Giedion syndrome, SETBP1, has been identified, but limited cases have been confirmed by molecular analysis. We present a 9-month-old girl affected by West syndrome with Schinzel-Giedion syndrome. Congenital severe hydronephrosis, typical facial features, and multiple anomalies suggested a clinical diagnosis of Schinzel-Giedion syndrome. Hypsarrhythmia occurred at 7 months of age and was temporarily controlled by adrenocorticotropic hormone (ACTH) therapy during 5 weeks. SETBP1 mutational analysis showed the presence of a recurrent mutation, p.Ile871Thr. The implications in management of Schinzel-Giedion syndrome are discussed.

  11. Drug-Induced Hematologic Syndromes

    PubMed Central

    Mintzer, David M.; Billet, Shira N.; Chmielewski, Lauren

    2009-01-01

    Objective. Drugs can induce almost the entire spectrum of hematologic disorders, affecting white cells, red cells, platelets, and the coagulation system. This paper aims to emphasize the broad range of drug-induced hematological syndromes and to highlight some of the newer drugs and syndromes. Methods. Medline literature on drug-induced hematologic syndromes was reviewed. Most reports and reviews focus on individual drugs or cytopenias. Results. Drug-induced syndromes include hemolytic anemias, methemoglobinemia, red cell aplasia, sideroblastic anemia, megaloblastic anemia, polycythemia, aplastic anemia, leukocytosis, neutropenia, eosinophilia, immune thrombocytopenia, microangiopathic syndromes, hypercoagulability, hypoprothrombinemia, circulating anticoagulants, myelodysplasia, and acute leukemia. Some of the classic drugs known to cause hematologic abnormalities have been replaced by newer drugs, including biologics, accompanied by their own syndromes and unintended side effects. Conclusions. Drugs can induce toxicities spanning many hematologic syndromes, mediated by a variety of mechanisms. Physicians need to be alert to the potential for iatrogenic drug-induced hematologic complications. PMID:19960059

  12. Dravet Syndrome History

    ERIC Educational Resources Information Center

    Dravet, Charlotte

    2011-01-01

    Severe myoclonic epilepsy of infancy (SMEI) is a complex form of epilepsy that was first described in France in 1978. Because the myoclonic component of this epilepsy is not always present and because some variability has been observed in the symptomatology, the name was changed to Dravet syndrome in 1989. The genetic aetiology of this epilepsy…

  13. The nonthyroidal illness syndrome.

    PubMed

    Adler, Suzanne Myers; Wartofsky, Leonard

    2007-09-01

    This article briefly summarizes thyroid function alterations generally seen in the euthyroid sick syndrome, provides an overview of specific thyroidal adaptations during several clinical conditions and secondary to specific pharmacologic agents, and discusses the current controversy in thyroid hormone treatment of nonthyroidal illness.

  14. Fatigue syndrome in sarcoidosis.

    PubMed

    Górski, Witold; Piotrowski, Wojciech J

    2016-01-01

    Sarcoidosis is an inflammatory disease of unknown etiology. Most commonly it results in the formation of non-caseating granulomas in intrathoracic lymph nodes and lung parenchyma, but the clinical course and picture may be complicated by extrapulmonary involvement and many non-respiratory signs and symptoms which are directly related to the disease. In addition, sarcoidosis patients may suffer from a plethora of symptoms of uncertain or unknown origin. Fatigue is one of these symptoms, and according to some authors it is reported by the majority of patients with active sarcoidosis, but also by a smaller proportion of patients with inactive sarcoidosis, or even with complete clinical and radiological remission. Therefore the term fatigue syndrome is frequently used to name this clinical problem. The definition of fatigue syndrome in sarcoidosis is imprecise and the syndrome is usually recognized by use of validated questionnaires. In this review the uptodate knowledge in this field was presented and different challenges connected with this syndrome were described.

  15. Down Syndrome: Cognitive Phenotype

    ERIC Educational Resources Information Center

    Silverman, Wayne

    2007-01-01

    Down syndrome is the most prevalent cause of intellectual impairment associated with a genetic anomaly, in this case, trisomy of chromosome 21. It affects both physical and cognitive development and produces a characteristic phenotype, although affected individuals vary considerably with respect to severity of specific impairments. Studies…

  16. Stuttering in Down's Syndrome

    ERIC Educational Resources Information Center

    Preus, Alf

    1972-01-01

    In several earlier investigations an exceptionally high frequency of stuttering in individuals with Down's syndrome has been found. It has been doubted whether these symptoms represent genuine stuttering, or if it is the question of stuttering-like behavior, particularly cluttering. Statistical analysis showed the occurrence of stuttering and…

  17. Pharmacotherapy for Dravet Syndrome.

    PubMed

    Wallace, Adam; Wirrell, Elaine; Kenney-Jung, Daniel L

    2016-06-01

    Dravet syndrome (DS) is an intractable pediatric epilepsy syndrome, starting in early childhood. This disorder typically manifests with febrile status epilepticus, and progresses to a multifocal epilepsy with febrile and non-febrile seizures with encephalopathy. Most cases are due to a mutation in the SCN1A gene. This article reviews treatments for DS, with an emphasis on pharmacotherapy. While many medications are used in treating the seizures associated with DS, these patients typically have medically refractory epilepsy, and polytherapy is often required. First-line agents include valproate and clobazam, although there are supportive data for topiramate, levetiracetam, stiripentol and the ketogenic diet. Other agents such as fenfluramine are promising therapies for Dravet syndrome. Sodium channel-blocking anticonvulsants such as carbamazepine and lamotrigine are generally contraindicated in this syndrome. Nonpharmacologic therapies (such as neurostimulation or surgery) are understudied in DS. Because DS is a global encephalopathy, pharmacologic treatment of non-epileptic manifestations of the disease is often necessary. Attention-deficit hyperactivity disorder is often encountered in patients with DS, and psychostimulants can be helpful for this indication. Other psychoactive drugs are less studied in this context. Extrapyramidal and gait disorders are often encountered in DS as well. While DS is a severe epileptic encephalopathy with a high (up to 15 %) mortality rate in childhood, careful pharmacologic management can improve these patients' clinical picture and quality of life. PMID:26966048

  18. Tourette Syndrome: Classroom Implications

    ERIC Educational Resources Information Center

    Chaturvedi, Amrita; Gartin, Barbara C.; Murdick, Nikki L.

    2011-01-01

    Tourette Syndrome (TS) is a neurobiological disorder characterized by various involuntary motor movements and vocal tics. Symptoms of TS emerge between the ages of 3 to 8 years old, are most severe when an individual reaches puberty, and decrease by the time a person is 20 years old. Additionally, persons with TS may have secondary disabilities of…

  19. [Autoinflammatory syndromes in childhood].

    PubMed

    Horneff, G

    2015-08-01

    Systemic autoinflammatory diseases are a group of hereditary and non-hereditary diseases of the innate immune system, characterized by inflammation with no apparent cause, recurrence at irregular intervals and manifestation on the skin, mucous membranes, joints, bone, gastrointestinal tract, blood vessels and the central nervous system (CNS). Amyloidosis and other possibly severe long-term complications are important. Advances in genetics and molecular biology have improved understanding of the pathogenesis of these diseases, including familial Mediterranean fever, mevalonate kinase deficiency syndrome, tumor necrosis factor receptor-associated periodic syndrome, cryopyrin-associated periodic syndrome and improved others. The vast majority of these diseases are based on activation of the interleukin-1 (IL-1) pathway, so that inhibition of IL-1 provides a therapeutic option. Other syndromes are characterized by a granulomatous inflammation. Newer autoinflammatory diseases, such as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) and stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy (SAVI) are, however, driven by interferons. PMID:26238708

  20. Carpal Tunnel Syndrome

    PubMed Central

    Mahoney, James Leo; Dagum, Alexander B.

    1992-01-01

    Carpal tunnel syndrome is a very common hand problem usually presenting with nighttime pain, numbness, and loss of dexterity. Controversy arises over the diagnosis, treatment, and evaluation of results. Nighttime splinting will improve the symptoms in some patients. If this fails, excellent results can be achieved with surgical decompression of the median nerve in the carpal canal. PMID:21221355

  1. Postural orthostatic tachycardia syndrome.

    PubMed

    Agarwal, A K; Garg, R; Ritch, A; Sarkar, P

    2007-07-01

    Postural orthostatic tachycardia syndrome (POTS) is an autonomic disturbance which has become better understood in recent years. It is now thought to encompass a group of disorders that have similar clinical features, such as orthostatic intolerance, but individual distinguishing parameters--for example, blood pressure and pulse rate. The clinical picture, diagnosis, and management of POTS are discussed.

  2. Sudden Infant Death Syndrome.

    ERIC Educational Resources Information Center

    Barnett, Henry L.; And Others

    There is a growing body of evidence that Sudden Infant Death Syndrome (SIDS) victims are not completely normal and healthy, as was once believed. A variety of new information from several disciplines strongly suggests that the infant who dies suddenly and unexpectedly may do so because of subtle developmental, neurologic, cardiorespiratory, and…

  3. The antiphospholipid syndrome.

    PubMed

    Franchini, Massimo; Veneri, Dino

    2005-08-01

    Antiphospholipid syndrome is an autoimmune disorder characterized by the association between antiphospholipid antibodies and venous or arterial thrombosis or obstetric complications. In spite of the recent progresses, many aspects of this disease remain unclear. In this review, we briefly focus on the most important advances in the pathophysiology, diagnosis and treatment of this condition.

  4. Doege-Potter Syndrome.

    PubMed

    Ahluwalia, N; Attia, R; Green, A; Cane, P; Routledge, T

    2015-10-01

    Doege-Potter syndrome is a rare paraneoplastic syndrome presenting as a hypoinsulinaemic hypoglycaemia from the ectopic secretion of a prohormone of insulin-like growth factor II (IGF-II) from a solitary fibrous tumour. Surgical resection is curative in the majority of cases. If, however, the diagnosis is not suspected and treatment is delayed, it can lead to hypoxic cerebral injury or death. The underlying tumour can be a benign or malignant pleural tumour but may be present in extrapleural sites. For a diagnosis of Doege-Potter syndrome, symptoms attributable to hypoglycaemia and low blood glucose levels should be present along with the secretion of prohormone IGF-II. We report a case of severe hypoglycaemia in a 76-year-old inpatient admitted for resection of a recurrent left-sided pleural tumour. Investigation revealed true hypoglycaemia and Doege-Potter syndrome was diagnosed. The tumour was completely resected and the patient made a full recovery with no further hypoglycaemic episodes.

  5. National Down Syndrome Society

    MedlinePlus

    ... rapid and developmentally significant changes during this time. Children with Down syndrome typically face delays in certain areas of development, so early intervention is highly recommended. Read More » National Buddy Walk® Program The Buddy Walk® was established in 1995 by ...

  6. Annotation: The Savant Syndrome

    ERIC Educational Resources Information Center

    Heaton, Pamela; Wallace, Gregory L.

    2004-01-01

    Background: Whilst interest has focused on the origin and nature of the savant syndrome for over a century, it is only within the past two decades that empirical group studies have been carried out. Methods: The following annotation briefly reviews relevant research and also attempts to address outstanding issues in this research area.…

  7. The Syndrome of Catatonia

    PubMed Central

    Wilcox, James Allen; Reid Duffy, Pam

    2015-01-01

    Catatonia is a psychomotor syndrome which has historically been associated with schizophrenia. Many clinicians have thought that the prevalence of this condition has been decreasing over the past few decades. This review reminds clinicians that catatonia is not exclusively associated with schizophrenia, and is still common in clinical practice. Many cases are related to affective disorders or are of an idiopathic nature. The illusion of reduced prevalence has been due to evolving diagnostic systems that failed to capture catatonic syndromes. This systemic error has remained unchallenged, and potentiated by the failure to perform adequate neurological evaluations and catatonia screening exams on psychiatric patients. We find that current data supports catatonic syndromes are still common, often severe and of modern clinical importance. Effective treatment is relatively easy and can greatly reduce organ failure associated with prolonged psychomotor symptoms. Prompt identification and treatment can produce a robust improvement in most cases. The ongoing prevalence of this syndrome requires that psychiatrists recognize catatonia and its presentations, the range of associated etiologies, and the import of timely treatment. PMID:26690229

  8. Prader-Willi Syndrome

    ERIC Educational Resources Information Center

    Kundert, Deborah King

    2008-01-01

    Although known for its distinctive food-related behaviors, Prader-Willi syndrome is a multisystem disorder with genetic, developmental, and behavioral features. Two separate and distinct eating disorders are noted: initial feeding difficulties and failure to thrive, and later overeating. Additional outcomes observed with this disorder include…

  9. Kraepelin-fraud syndrome.

    PubMed

    Kraepelin, Emil; Freud, Sigmund; Healy, David

    2009-04-01

    Emil Kraepelin (1856-1926) and Sigmund Freud (1856-1936) here (via mysterious mediumistic mechanisms) describe a syndrome, which probably emerged in the 1950s, and can now readily be observed at medical conferences. At its core, the syndrome is comprised of extreme abilities to compartmentalise information of the type found in scientific conferences, an episodic preoccupation with the surface of a science but inability to appreciate its substance (episodic logosagnosia) and a mood state that is heavily dependent on gratification from the range of outlets available at modern conferences. Current estimates of the frequency of the condition are that there are approximately 20 full-blown psychopharmacological carriers of the syndrome per 100 million populations. This should yield a figure of 200 in Europe and North America. If a similar phenomenon applies in other branches of medicine this would yield a further 1200 affected individuals in Western medical circles. It is of pressing interest to establish whether the Kraepelin-Fraud Syndrome exists to any degree in non-medical science, and whether there are differences between those sciences with and without significant commercial applications.

  10. Modelling Down Syndrome

    ERIC Educational Resources Information Center

    Buckley, Frank

    2008-01-01

    Animal models are extensively used in genetics, neuroscience and biomedical research. Recent studies illustrate the usefulness and the challenges of research utilising genetically engineered mice to explore the developmental biology of Down syndrome. These studies highlight many of the issues at the centre of what we understand about Down…

  11. What Is Usher Syndrome?

    MedlinePlus

    ... 1E, 1F, 1G, 2A, 2B, 2C and 3A). Gene therapy to replace defective Usher genes is being studied ... treatments for Usher syndrome, including artificial retinal implants, gene therapy and stem cell treatments. For more information on ...

  12. Revisiting Plummer Vinson Syndrome

    PubMed Central

    Gude, D; Bansal, DP; Malu, A

    2013-01-01

    Plummer Vinson syndrome is a rare association of postcricoid dysphagia, upper esophageal webs, and iron deficiency anemia. Iron deficiency state has been hypothesized to play an etiological role. While literature review elucidates the resolution of dysphagia in most cases with iron therapy, we discuss our case where the dysphagia was resistant to such therapy and necessitated a mechanical dilatation. PMID:23634346

  13. Revisiting plummer vinson syndrome.

    PubMed

    Gude, D; Bansal, Dp; Malu, A

    2013-01-01

    Plummer Vinson syndrome is a rare association of postcricoid dysphagia, upper esophageal webs, and iron deficiency anemia. Iron deficiency state has been hypothesized to play an etiological role. While literature review elucidates the resolution of dysphagia in most cases with iron therapy, we discuss our case where the dysphagia was resistant to such therapy and necessitated a mechanical dilatation.

  14. Tics through Tourette's syndrome.

    PubMed

    Carter, J H

    1991-06-01

    The concept of Tourette's syndrome as a bizarre and disabling disorder has changed with greater appreciation that this is a spectrum of symptoms and degrees of severity. A thorough understanding of the latest concepts regarding recognition and management is essential for the neuroscience nurse to play a meaningful role as counselor, educator and clinician in the care of these patients and families.

  15. [Postvagotomy adaptation syndrome].

    PubMed

    Shapovalov, V A

    1998-01-01

    It was established in experiment, that the changes of the natural resistance of organism indexes and of the peritoneal cavity cytology has compensatory-adaptational character while the denervation-adaptational syndrome occurrence and progress, which may be assessed as eustress. Vagotomy and operative trauma cause qualitatively different reactions of an organism.

  16. Munchausen syndrome and necrophilia.

    PubMed

    Faguet, R A

    1980-01-01

    Munchausen syndrome and necrophilia are uncommon disorders which do not appear to be related. It is suggested, however, that both of them center on "return to the womb" fantasies and may represent variants of each other. Specifically, the Munchausen patient's symptom triad (factitious illness, peregrination, pseudologia fantastica) is seen to reflect a wish for death and reunion with the maternal object.

  17. Ectopic Cushing syndrome

    MedlinePlus

    ... to various problems. One such problem is called Cushing disease . It occurs when the pituitary gland makes too ... Ferri FF. Cushing's disease and syndrome. In: Ferri FF, ed. Ferri's Clinical Advisor 2016 . Philadelphia, PA: Elsevier Mosby; 2016:385-386. Nieman ...

  18. Sotos Syndrome. Clinical Exchange.

    ERIC Educational Resources Information Center

    Shuey, Elaine M.; Jamison, Kristen

    1996-01-01

    Sotos syndrome is characterized by high birth length, rapid bone growth, distinctive facial features, and possible verbal and motor delays. It is more common in males than females. Developmental deficits, specific learning problems, and speech/language delays may also occur. (DB)

  19. [Myofascial pain syndrome].

    PubMed

    Kehler, Tatjana

    2013-01-01

    It is unable to identify any kind of structural abnormalities in about 85% patients affected with muscle pain. Sometimes is one mucle received with pains, commonly because of stress or fatigue (epecially after intensive training process). It is called myfascial pain syndrom (MPS). When more muscles are affected it is called fibromyalgia.

  20. Update: Toxic Shock Syndrome.

    ERIC Educational Resources Information Center

    Price, James H.

    1981-01-01

    School health professionals can help reduce the incidence of Toxic Shock Syndrome by suggesting that women not use tampons continuously during menses and that tampons should not be left in place for long periods of time. Tampons should be changed every few hours and used intermittently with pads. (JN)

  1. Fetal Alcohol Syndrome.

    ERIC Educational Resources Information Center

    Zerrer, Peggy

    The paper reviews Fetal Alcohol Syndrome (FAS), a series of effects seen in children whose mothers drink alcohol to excess during pregnancy. The identification of FAS and its recognition as a major health problem in need of prevention are traced. Characteristics of children with FAS are described and resultant growth retardation, abnormal physical…

  2. The Fetal Alcohol Syndrome.

    ERIC Educational Resources Information Center

    Umbreit, John; Ostrow, Lisa S.

    1980-01-01

    Fetal alcohol syndrome is a pattern of altered growth and morphogenesis found in about half the offspring of severely and chronically alcoholic women who continue drinking throughout their pregnancy. Of children studied, mild to moderate mental retardation was the most common disorder, occurring in 44 percent of the cases. (PHR)

  3. [Os trigonum syndrome].

    PubMed

    Zeichen, J; Schratt, E; Bosch, U; Thermann, H

    1999-04-01

    The os trigonum syndrome is an entity causing posterior ankle pain and occurs mostly with typical sports activities. Diagnosis and differential diagnosis are presented. Typical complaints and therapeutic procedure are demonstrated in one case. Therapy includes different non-operative methods, resistance to non-operative procedures is an indication for excision of this ossicle.

  4. Fragile X Syndrome

    ERIC Educational Resources Information Center

    Schwarte, Andrea R.

    2008-01-01

    This article provides an overview of current research on Fragile X Syndrome, and how that knowledge can be used to guide successful intervention. The genetic etiology of Fragile X is reviewed and the physical, cognitive, adaptive, behavioral, and emotional phenotypes of children with the disorder are described, highlighting the differences in…

  5. Childhood myelodysplastic syndrome.

    PubMed

    Chatterjee, Tathagata; Choudhry, V P

    2013-09-01

    Myelodysplastic syndrome (MDS) comprises of a heterogeneous group of bone marrow disorders resulting from a clonal stem cell defect characterised by cytopenias despite a relatively hypercellular marrow, ineffective hematopoiesis, morphological dysplasia in the marrow elements, no response to hematinics such as iron, B12 or folic acid and risk of progression to leukemia. Myelodysplastic syndrome in childhood is extremely rare and accounts for less than 5% of all hematopoietic neoplasms in children below the age of 14 y. The primary MDS in children, also known as de novo MDS differs from secondary MDS which generally follows congenital or acquired bone marrow (BM) failure syndromes as well as from therapy related MDS, commonly resulting from cytotoxic therapy. MDS associated with Down syndrome which accounts for approximately one-fourth of cases of childhood MDS is now considered a unique biologic entity synonymous with Down syndrome-related myeloid leukemia and is biologically distinct from other cases of childhood MDS. Refractory cytopenia of childhood (RCC) is the commonest type of MDS. Genetic changes predisposing to MDS in childhood remain largely obscure. Monosomy 7 is by-far the commonest cytogenetic abnormality associated with childhood MDS; however most cases of RCC show a normal karyotype. Complex cytogenetic abnormalities and trisomy 8 and trisomy 21 are also occasionally observed. The most effective and curative treatment is Hematopoietic stem cell transplantation and this is particularly effective in children with the monosomy 7 genetic defect as well as those displaying complex karyotype abnormalities provided it is instituted early in the course of the disease.

  6. Syndromic diarrhea/Tricho-hepato-enteric syndrome

    PubMed Central

    2013-01-01

    Abstract Syndromic diarrhea/Tricho-hepato-enteric syndrome (SD/THE) is a rare and severe bowel disorder caused by mutation in SKIV2L or in TTC37, 2 genes encoding subunits of the putative human SKI complex. The estimated prevalence is 1/1,000,000 births and the transmission is autosomal recessive. The classical form is characterized by 5 clinical signs: intractable diarrhea of infancy beginning in the first month of life, usually leading to failure to thrive and requiring parenteral nutrition; facial dysmorphism characterised by prominent forehead and cheeks, broad nasal root and hypertelorism; hair abnormalities described as woolly and easily removable; immune disorders resulting from defective antibody production; intrauterine growth restriction. The aetiology is a defect in TTC37, a TPR containing protein, or in the RNA helicase SKIV2L, both constituting the putative human ski complex. The ski complex is a heterotetrameric cofactor of the cytoplasmic RNA exosome which ensures aberrants mRNAs decay. The diagnosis SD/THE is initially based on clinical findings and confirmed by direct sequencing of TTC37 and SKIV2L. Differential diagnosis with the other causes of intractable diarrhea is easily performed by pathologic investigations. During their clinical course, most of the children require parenteral nutrition and often immunoglobulin supplementation. With time, some of them can be weaned off parenteral nutrition and immunoglobulin supplementation. The prognosis depends on the management and is largely related to the occurrence of parenteral nutrition complications or infections. Even with optimal management, most of the children seem to experience failure to thrive and final short stature. Mild mental retardation is observed in half of the cases. Abstract in French Les diarrhées syndromiques ou syndrome tricho-hepato-enterique (SD/THE) sont un syndrome rare et sévère dont l’incidence est estimée à 1 cas pour 1 million de naissances et la transmission

  7. Targeted therapy for genetic cancer syndromes: Von Hippel-Lindau disease, Cowden syndrome, and Proteus syndrome.

    PubMed

    Agarwal, Rishi; Liebe, Sarah; Turski, Michelle L; Vidwans, Smruti J; Janku, Filip; Garrido-Laguna, Ignacio; Munoz, Javier; Schwab, Richard; Rodon, Jordi; Kurzrock, Razelle; Subbiah, Vivek

    2015-02-01

    Von Hippel-Lindau disease, Cowden syndrome, and Proteus syndrome are cancer syndromes which affect multiple organs and lead to significant decline in quality of life in affected patients. These syndromes are rare and typically affect the adolescent and young adult population, resulting in greater cumulative years of life lost. Improved understanding of the underpinnings of the genetic pathways underlying these syndromes and the rapid evolution of targeted therapies in general have made it possible to develop therapeutic options for these patients and other genetic cancer syndromes. Targeted therapies especially antiangiogenics and inhibitors of the PIK3CA/AKT/mTOR signaling pathway have shown activity in selected group of patients affected by these syndromes or in patients harboring specific sporadic mutations which are otherwise characteristic of these syndromes. Unfortunately due to the rare nature, patients with these syndromes are not the focus of clinical trials and unique results seen in these patients can easily go unnoticed. Most of the data suggesting benefits of targeted therapies are either case reports or small case series. Thus, a literature review was indicated. In this review we explore the use of molecularly targeted therapy options in Von Hippel-Lindau disease, Cowden syndrome, and Proteus syndrome. PMID:25725225

  8. LEOPARD syndrome is not linked to the Marfan syndrome and the Watson syndrome loci

    SciTech Connect

    Rass-Rothchild, A.: Abeliovitch, D.; Kornstein, A. |

    1994-09-01

    The acronym LEOPARD stands for a syndromic association of Lentigines, Eletrocardiographic changes, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth and sensorineural Deafness. Inheritance is autosomal dominant with high penetrance and variable expressivity. In 1990 Torok et al. reported on the association of LEOPARD and Marfan syndrome. In addition a clinical similarity (cardiac and cutaneous involvement) exists with the Watson syndrome (neurofibromatosis and pulmonic stenosis) which is linked to the marker D17S33 on chromosome 17. We studied possible linkage of LEOPARD syndrome to the Marfan syndrome locus on chromosome 15 (D15S1, MF13, and (TAAAA)n repeats) and to the NF-1 locus on chromosome 17 in a family with 9 cases of LEOPARD syndrome. Close linkage between LEOPARD syndrome and both the Marfan locus on chromosome 15 and the NF-1 locus on chromosome 17 was excluded (lod score <-2.0 through {theta} = 0.1).

  9. The developmental trajectory of disruptive behavior in Down syndrome, fragile X syndrome, Prader-Willi syndrome and Williams syndrome.

    PubMed

    Rice, Lauren J; Gray, Kylie M; Howlin, Patricia; Taffe, John; Tonge, Bruce J; Einfeld, Stewart L

    2015-06-01

    The aim of this study was to investigate the developmental trajectories of verbal aggression, physical aggression, and temper tantrums in four genetic syndrome groups. Participants were part of the Australian Child to Adult Development Study (ACAD), which collected information from a cohort of individuals with an intellectual disability at five time points over 18 years. Data were examined from a total of 248 people with one of the four following syndromes: Down syndrome, Fragile X syndrome, Prader-Willi syndrome, or Williams syndrome. Changes in behaviors were measured using validated items from the Developmental Behavior Checklist (DBC). The results indicate that, while verbal aggression shows no evidence of diminishing with age, physical aggression, and temper tantrums decline with age before 19 years for people with Down syndrome, Fragile X syndrome, and William syndrome; and after 19 years for people with Prader-Willi syndrome. These findings offer a somewhat more optimistic outlook for people with an intellectual disability than has previously been suggested. Research is needed to investigate the mechanisms predisposing people with PWS to persistence of temper tantrums and physical aggression into adulthood. PMID:25983069

  10. The developmental trajectory of disruptive behavior in Down syndrome, fragile X syndrome, Prader-Willi syndrome and Williams syndrome.

    PubMed

    Rice, Lauren J; Gray, Kylie M; Howlin, Patricia; Taffe, John; Tonge, Bruce J; Einfeld, Stewart L

    2015-06-01

    The aim of this study was to investigate the developmental trajectories of verbal aggression, physical aggression, and temper tantrums in four genetic syndrome groups. Participants were part of the Australian Child to Adult Development Study (ACAD), which collected information from a cohort of individuals with an intellectual disability at five time points over 18 years. Data were examined from a total of 248 people with one of the four following syndromes: Down syndrome, Fragile X syndrome, Prader-Willi syndrome, or Williams syndrome. Changes in behaviors were measured using validated items from the Developmental Behavior Checklist (DBC). The results indicate that, while verbal aggression shows no evidence of diminishing with age, physical aggression, and temper tantrums decline with age before 19 years for people with Down syndrome, Fragile X syndrome, and William syndrome; and after 19 years for people with Prader-Willi syndrome. These findings offer a somewhat more optimistic outlook for people with an intellectual disability than has previously been suggested. Research is needed to investigate the mechanisms predisposing people with PWS to persistence of temper tantrums and physical aggression into adulthood.

  11. Ciliary disturbances in syndromal and non-syndromal obesity.

    PubMed

    de Vries, Tamar I; van Haelst, Mieke M

    2014-06-01

    Obesity is an increasing global health problem. Although it is mainly thought to be due to the changing obesogenic environment, the genetic contribution has been estimated between 40-70%. A number of genes have been identified that cause obesity in animals as well as in humans. Rare highly penetrant monogenic forms of obesity can cause both syndromal and non-syndromal forms of obesity. Bardet-Biedl syndrome and Alström syndrome are well known monogenic obesity syndromes caused by primary cilia defects. The pathogenesis of the obesity phenotype in these disorders is however not fully understood. Disturbance of the appetite regulation system, abnormalities in body composition and decreased energy expenditure have been suggested to cause obesity in these ciliopathies. There are currently 19 known genes associated with Bardet-Biedl syndrome and one Alström syndrome gene. Although ciliopathy genes have been described primarily in these syndromal obesity disorders, non-syndromal obesity may also result from disturbed cilia function. There are multiple genes associated with both obesity and ciliary function. Here we provide an overview of the current knowledge of the clinical, pathophysiological and genetic aspects of obesity in patients with ciliary defects. PMID:27625866

  12. Ciliary disturbances in syndromal and non-syndromal obesity

    PubMed Central

    de Vries, Tamar I.; van Haelst, Mieke M.

    2014-01-01

    Obesity is an increasing global health problem. Although it is mainly thought to be due to the changing obesogenic environment, the genetic contribution has been estimated between 40–70%. A number of genes have been identified that cause obesity in animals as well as in humans. Rare highly penetrant monogenic forms of obesity can cause both syndromal and non-syndromal forms of obesity. Bardet-Biedl syndrome and Alström syndrome are well known monogenic obesity syndromes caused by primary cilia defects. The pathogenesis of the obesity phenotype in these disorders is however not fully understood. Disturbance of the appetite regulation system, abnormalities in body composition and decreased energy expenditure have been suggested to cause obesity in these ciliopathies. There are currently 19 known genes associated with Bardet-Biedl syndrome and one Alström syndrome gene. Although ciliopathy genes have been described primarily in these syndromal obesity disorders, non-syndromal obesity may also result from disturbed cilia function. There are multiple genes associated with both obesity and ciliary function. Here we provide an overview of the current knowledge of the clinical, pathophysiological and genetic aspects of obesity in patients with ciliary defects.

  13. Metabolic syndrome and polycystic ovary syndrome: an intriguing overlapping.

    PubMed

    Caserta, Donatella; Adducchio, Gloria; Picchia, Simona; Ralli, Eleonora; Matteucci, Eleonora; Moscarini, Massimo

    2014-06-01

    Metabolic syndrome is an increasing pathology in adults and in children, due to a parallel rise of obesity. Sedentary lifestyle, food habits, cultural influences and also a genetic predisposition can cause dyslipidemia, hypertension, abdominal obesity and insulin resistance which are the two main features of metabolic syndrome. Polycystic ovary syndrome (PCOS) is a condition directly associated with obesity, insulin resistance (HOMA index) and metabolic syndrome, and it is very interesting for its relationship and overlap with the metabolic syndrome. The relationship between the two syndromes is mutual: PCOS women have a higher prevalence of metabolic syndrome and also women with metabolic syndrome commonly present the reproductive/endocrine trait of PCOS. Prevention and treatment of metabolic syndrome and PCOS are similar for various aspects. It is necessary to treat excess adiposity and insulin resistance, with the overall goals of preventing cardiovascular disease and type 2 diabetes and improving reproductive failure in young women with PCOS. First of all, lifestyle changes, then pharmacological therapy, bariatric surgery and laparoscopic ovarian surgery represent the pillars for PCOS treatment.

  14. Pneumococcal hemolytic uremic syndrome and steroid resistant nephrotic syndrome

    PubMed Central

    Groves, Andrew P.; Reich, Patrick; Sigdel, Binayak; Davis, T. Keefe

    2016-01-01

    Pneumococcal-associated hemolytic uremic syndrome (pHUS) is a rare but severe complication of invasive Streptococcus pneumoniae infection. We report the case of a 12-year-old female with steroid-resistant nephrotic syndrome treated with adrenocorticotrophic hormone (H.P. Acthar® Gel), who developed pneumococcal pneumonia and subsequent pHUS. While nephrotic syndrome is a well-known risk factor for invasive pneumococcal disease, this is the first reported case of pHUS in an adolescent patient with nephrotic syndrome, and reveals novel challenges in the diagnosis, treatment and potential prevention of this complication. PMID:27478599

  15. Wolf-Hirschhorn (4p-) syndrome with West syndrome.

    PubMed

    Motoi, Hirotaka; Okanishi, Tohru; Kanai, Sotaro; Yokota, Takuya; Yamazoe, Tomohiro; Nishimura, Mitsuyo; Fujimoto, Ayataka; Yamamoto, Takamichi; Enoki, Hideo

    2016-01-01

    Wolf-Hirschhorn syndrome (WHS) is a chromosome disorder (4p-syndrome) which is characterized by craniofacial features and epileptic seizures. Here, we report a case of WHS with West syndrome, in whom the seizures were refractory to several antiepileptic drugs but were responsive to the addition of lamotrigine. The patient had epileptic spasms at age seven months. The interictal electroencephalogram was hypsarrhythmic. After adding lamotrigine, seizures decreased remarkably, and spasms disappeared. We have identified and described the very rare case of a girl with WHS who also developed West syndrome. In this case, adding lamotrigine to her medications effectively treated the spasms.

  16. [Clinical guideline 'Turner syndrome'].

    PubMed

    van den Akker, Erica L T; van Alfen, A A E M Janiëlle; Sas, Theo C J; Kerstens, Michiel N; Cools, Martine; Lambalk, Cornelis B

    2014-01-01

    Turner syndrome occurs in women who are missing one X chromosome. The most obvious symptoms are small stature and ovarian failure. Turner patients have an increased risk of a large number of disorders, and should therefore have lifelong medical supervision. Recent insights into patient management have been incorporated into the guidelines. Patients are increasingly involved in their own treatment. In patients with 45,X karyotype, Y-chromosomal material is actively sought in a larger number of cells and/or other tissues, using FISH. Pubertal induction therapy, if required, is initiated at an appropriate age. Egg donation or vitrification are new therapeutic options for fertility treatment. Monitoring for cardiac and vascular disease using cardiac ultrasound and MRI is performed more often, partly in connection with the risk of aortal dissection. The coordination of care of patients with Turner syndrome is concentrated in specialized centres in the Netherlands and Belgium.

  17. Shaken baby syndrome

    PubMed Central

    Blumenthal, I

    2002-01-01

    Shaken baby syndrome is the most common cause of death or serious neurological injury resulting from child abuse. It is specific to infancy, when children have unique anatomic features. Subdural and retinal haemorrhages are markers of shaking injury. An American radiologist, John Caffey, coined the name whiplash shaken infant syndrome in 1974. It was, however, a British neurosurgeon, Guthkelch who first described shaking as the cause of subdural haemorrhage in infants. Impact was later thought to play a major part in the causation of brain damage. Recently improved neuropathology and imaging techniques have established the cause of brain injury as hypoxic ischaemic encephalopathy. Diffusion weighted magnetic resonance imaging is the most sensitive and specific method of confirming a shaking injury. Families of children with subdural haemorrhages should be thoroughly investigated by social welfare agencies. PMID:12509690

  18. Chronic Exertional Compartment Syndrome.

    PubMed

    Braver, Richard T

    2016-04-01

    Increased tissue pressure within a fascial compartment may be the result from any increase in volume within its contents, or any decrease in size of the fascial covering or its distensibility. This may lead to symptoms of leg tightness, pain or numbness brought about by exercise. There are multiple differential diagnoses of exercise induced leg pain and the proper diagnoses of chronic exertional compartment syndrome (CECS) is made by a careful history and by exclusion of other maladies and confirmed by compartment syndrome testing as detailed in this text. Surgical fasciotomies for the anterior, lateral, superficial and deep posterior compartments are described in detail along with ancillary procedures for chronic shin splints that should allow the athlete to return to competitive activity.

  19. Lennox-Gastaut syndrome

    PubMed Central

    Al-Banji, Muradi H.; Zahr, Doaa K.; Jan, Mohammed M.

    2015-01-01

    Lennox-Gastaut syndrome (LGS) is a severe pediatric epilepsy syndrome characterized by mixed seizures, cognitive decline, and generalized slow (<3Hz) spike wave discharges on electroencephalography. Atonic seizures result in dangerous drop attacks with risks of injury and impairment of the quality of life. The seizures are frequently resistant to multiple antiepileptic (AED) drugs. Newer AEDs, such as rufinamide, are now available. When multiple AED trials fail, non-pharmacological treatments such as the ketogenic diet, vagus nerve stimulation, and epilepsy surgery, should be considered. The aim of this review is to present an updated outline of LGS and the available treatments. Although the prognosis for complete seizure control remains poor, the addition of newer therapies provides an improved hope for some of these patients and their families. Further long term randomized controlled trials are required to compare different therapeutic interventions in terms of efficacy and tolerability. PMID:26166587

  20. Elejalde syndrome (ES).

    PubMed

    Mohammadzadeh Shanehsaz, Siavash; Rezazadeh, Azadeh; Dandashli, Anwar

    2015-03-01

    Silvery hair and severe dysfunction of the central nervous system (Neuroectodermal melanolysosomal disease or Elejalde Syndrome) characterize this rare autosomal recessive syndrome. The main clinical features include silver-leaden hair, bronze skin after sun exposure, and neurologic involvement. Large granules of melanin unevenly distributed in the hair shaft are observed. Abnormal melanocytes and melanosomes and abnormal inclusion bodies in fibroblasts may be present. We report a 10-year-old girl with silver-leaden (silvery) hair, bronze skin color on sun-exposed areas, generalized hypopigmentation of covered body parts, and congenital seizures. The child was the elder of two children born of a consanguineous marriage. The younger sibling, a female neonate, had the same clinical presentation. PMID:25780981

  1. The wheelchair thrombosis syndrome.

    PubMed Central

    Lohiya, Ghan-Shyam; Tan-Figueroa, Lilia; Silverman, Steve; Le, Hung Van

    2006-01-01

    OBJECTIVE: To report a case of deep vein thrombosis (DVT) related to prolonged wheelchair use. CASE REPORT: A 48-year-old patient with spastic quadriplegia usually spent 10-12 hours daily in a wheelchair. He suddenly developed marked swelling of his right foot, leg and thigh. His plasma D-dimer level was 1,030 (normal <500) ng/ml. A duplex ultrasound revealed common femoral vein thrombosis. He was hospitalized and anticoagulated; his extremity swelling decreased considerably by day 45. Hypercoagulability work-up disclosed previously subclinical mild elevation of serum cardiolipin immunoglobulin G (antiphospholipid syndrome). This patient will receive longterm anticoagulation. CONCLUSION: Prolonged sitting in wheelchair may cause DVT. To enhance public recognition of this avoidable risk, we propose the term "wheelchair thrombosis syndrome." PMID:16895294

  2. Deep gluteal syndrome

    PubMed Central

    Martin, Hal David; Reddy, Manoj; Gómez-Hoyos, Juan

    2015-01-01

    Deep gluteal syndrome describes the presence of pain in the buttock caused from non-discogenic and extrapelvic entrapment of the sciatic nerve. Several structures can be involved in sciatic nerve entrapment within the gluteal space. A comprehensive history and physical examination can orientate the specific site where the sciatic nerve is entrapped, as well as several radiological signs that support the suspected diagnosis. Failure to identify the cause of pain in a timely manner can increase pain perception, and affect mental control, patient hope and consequently quality of life. This review presents a comprehensive approach to the patient with deep gluteal syndrome in order to improve the understanding of posterior hip anatomy, nerve kinematics, clinical manifestations, imaging findings, differential diagnosis and treatment considerations. PMID:27011826

  3. The cone dysfunction syndromes

    PubMed Central

    Aboshiha, Jonathan; Dubis, Adam M; Hardcastle, Alison J; Michaelides, Michel

    2016-01-01

    The cone dysfunction syndromes are a heterogeneous group of inherited, predominantly stationary retinal disorders characterised by reduced central vision and varying degrees of colour vision abnormalities, nystagmus and photophobia. This review details the following conditions: complete and incomplete achromatopsia, blue-cone monochromatism, oligocone trichromacy, bradyopsia and Bornholm eye disease. We describe the clinical, psychophysical, electrophysiological and imaging findings that are characteristic to each condition in order to aid their accurate diagnosis, as well as highlight some classically held notions about these diseases that have come to be challenged over the recent years. The latest data regarding the genetic aetiology and pathological changes observed in the cone dysfunction syndromes are discussed, and, where relevant, translational avenues of research, including completed and anticipated interventional clinical trials, for some of the diseases described herein will be presented. Finally, we briefly review the current management of these disorders. PMID:25770143

  4. Hypercoagulability and nephrotic syndrome.

    PubMed

    Gigante, Antonietta; Barbano, Biagio; Sardo, Liborio; Martina, Paola; Gasperini, Maria L; Labbadia, Raffaella; Liberatori, Marta; Amoroso, Antonio; Cianci, Rosario

    2014-05-01

    Patients with nephrotic syndrome are at increased risk for thromboembolic events such as deep venous and arterial thrombosis, renal vein thrombosis and pulmonary embolism. This thrombophilic phenomenon has been attributed to a "hypercoagulable" state in which an imbalance between naturally occurring pro-coagulant/pro-thrombotic factors and anti-coagulant/antithrombotic factors promotes in situ thrombosis in deep veins or arteries. Management of thromboembolic events may be divided in prophylactic and therapeutic strategies. Hypoalbuminemia is the most significant independent predictor factor of thrombotic risk, especially for values <2 g/dL. However, the most important question in these patients is whether to anticoagulate prophylactically or not. The decision depends on type of glomerulonephritis, proteinuria severity, other predisposing factors and prior history of thrombosis. Reviewing the recent literature, we suggest the best therapeutic management of anticoagulation for patients with nephrotic syndrome, focusing on prophylactic strategies.

  5. Second Impact Syndrome

    PubMed Central

    Bey, Tareg; Ostick, Brian

    2009-01-01

    A controversial term first described by Saunders and Harbaugh1 in 1984, Second Impact Syndrome (SIS) consists of two events. Typically, it involves an athlete suffering post-concussive symptoms following a head injury.2 If, within several weeks, the athlete returns to play and sustains a second head injury, diffuse cerebral swelling, brain herniation, and death can occur. SIS can occur with any two events involving head trauma. While rare, it is devastating in that young, healthy patients may die within a few minutes. Emergency physicians should be aware of this syndrome and counsel patients and their parents concerning when to allow an athlete to return to play. Furthermore, we present guidelines for appropriate follow up and evaluation by a specialist when necessary. PMID:19561758

  6. Hantavirus pulmonary syndrome.

    PubMed

    Macneil, Adam; Nichol, Stuart T; Spiropoulou, Christina F

    2011-12-01

    Hantavirus pulmonary syndrome (HPS) is a severe disease characterized by a rapid onset of pulmonary edema followed by respiratory failure and cardiogenic shock. The HPS associated viruses are members of the genus Hantavirus, family Bunyaviridae. Hantaviruses have a worldwide distribution and are broadly split into the New World hantaviruses, which includes those causing HPS, and the Old World hantaviruses [including the prototype Hantaan virus (HTNV)], which are associated with a different disease, hemorrhagic fever with renal syndrome (HFRS). Sin Nombre virus (SNV) and Andes virus (ANDV) are the most common causes of HPS in North and South America, respectively. Case fatality of HPS is approximately 40%. Pathogenic New World hantaviruses infect the lung microvascular endothelium without causing any virus induced cytopathic effect. However, virus infection results in microvascular leakage, which is the hallmark of HPS. This article briefly reviews the knowledge on HPS-associated hantaviruses accumulated since their discovery, less than 20 years ago.

  7. [CENTRAL ANTICHOLINERGIC... SYNDROME?].

    PubMed

    Danilov, M S; Lebedinskii, K M

    2015-01-01

    While reading special literature in diferent languages the authors noted surprising fact: the term and concept of "central anticholinergic syndrome" is well-known as common anaesthesia complication in German (abbr: ZAS) and partially Spanish sources, but in Russian, English or French literature is used only in toxicological context. Describing etiology, pathogenesis, symptoms, diagnosis and treatment of the complication manifesting with comatose, agitated or shivering forms, the authors analyzing the reasons for such a noticeably diferent approaches to the situation reaching 10% of all the general anaesthesia cases. Probably, ZAS isn't nosologically clearly defined syndrome, but just adverse appearance of one of the fundamental general anaesthesia mechanisms? Anyway, the problem of central cholinergic activity suppression, excessive by its amplitude and/or duration, exists all over the world. German concept of ZAS allows the anaesthesiologist to resolve it on pathogenically generalized basis, while in other professional communities various symptomatic approaches seem to be more common. PMID:27025142

  8. Piriformis muscle syndrome.

    PubMed

    Kuncewicz, Elzbieta; Gajewska, Ewa; Sobieska, Magdalena; Samborski, Włodzimierz

    2006-01-01

    Sciatica is characterized by radiating pain from the sacro-lumbar region to the buttocks and down to the lower limb. The causes of sciatica usually relate to degenerative changes in the spine and lesions to the intervertebral discs. Secondary symptomatic sciatica may by caused by metastases to the vertebra, tuberculosis of the spine, tumors located inside the vertebral channel, or entrapment of the sciatic nerve in the piriformis muscle. The piriformis syndrome is primarily caused by fall injury, but other causes are possible, including pyomyositis, dystonia musculorum deformans, and fibrosis after deep injections. Secondary causes like irritation of the sacroiliac joint or lump near the sciatic notch have been described. In the general practice the so-called posttraumatic piriformis muscle syndrome is common. The right treatment can be started following a thorough investigation into the cause of symptoms. PMID:17385355

  9. Prader-Willi syndrome.

    PubMed Central

    Cassidy, S B

    1997-01-01

    Prader-Willi syndrome is a complex disorder affecting multiple systems with many manifestations relating to hypothalamic insufficiency. Major findings include infantile hypotonia, developmental delay and mental retardation, behaviour disorder, characteristic facial appearance, obesity, hypogonadism, and short stature. Obesity and the behavioural problems are the major causes of morbidity and mortality. Prader-Willi syndrome is caused by abnormalities of the imprinted region of proximal 15q and results from absence of the normally active paternal genes in this region. Such absence results from paternal interstitial deletion, maternal uniparental disomy, or a mutation or other abnormality in the imprinting process. Diagnostic identification of all causes has become available in recent years, permitting early detection and institution of appropriate management. This testing has permitted recent identification of some phenotypic differences among affected subjects of different race and between those with deletions and uniparental disomy as a cause. Images PMID:9391886

  10. Alice in Wonderland syndrome

    PubMed Central

    2016-01-01

    Abstract Purpose of review: To summarize the literature on Alice in Wonderland syndrome (AIWS), a disorder characterized by distortions of visual perception, the body schema, and the experience of time. Recent findings: On the basis of 169 published case descriptions, the etiology of AIWS is divided into 8 main groups, with neurologic disorders affecting mostly adults and elderly patients and encephalitides affecting mostly patients aged ≤18 years. Symptoms of AIWS are also experienced in the general population, with up to 30% of adolescents reporting nonclinical symptoms. Summary: In clinical cases of AIWS, auxiliary investigations (including blood tests, EEG, and brain MRI) are strongly advised. Treatment should be directed at the suspected underlying condition, although reassurance that the symptoms themselves are not harmful seems to suffice in about 50% of the cases. International classifications such as the DSM and ICD should consider placing the syndrome on their research agenda. PMID:27347442

  11. The idiopathic hypereosinophilic syndrome.

    PubMed Central

    Alfaham, M A; Ferguson, S D; Sihra, B; Davies, J

    1987-01-01

    A 14 year old girl with idiopathic hypereosinophilic syndrome is described. In addition to weight loss, anaemia, amenorrhoea, general lethargy, anorexia, mouth ulcers, blisters of hands and feet, and petechial skin rash, she had features of involvement of the cardiovascular system as the major complication. She responded well to treatment. After a comprehensive search of the published reports 18 cases of this syndrome were identified in children under 16 years. Fifteen of these children had involvement of the cardiovascular system as the major source of their morbidity and mortality. Summary of the clinical details and laboratory, biopsy, and necropsy findings of the involvement of the various organ systems of the 18 children is presented. PMID:3619478

  12. Inpatient alcohol withdrawal syndrome.

    PubMed

    Monte-Secades, R; Rabuñal-Rey, R; Guerrero-Sande, H

    2015-03-01

    A 55-year-old man was admitted for a femur fracture; an alcohol fetor was noted on admission. The following day, the patient began to experience tremors and nervousness. Intravenous haloperidol was administered. Shortly afterwards, the patient experienced two generalized seizures and then began to experience delirium and uncontrollable agitation. The patient was diagnosed with alcohol withdrawal syndrome; high doses of intravenous midazolam were prescribed and infused. A few hours later, the patient presented signs of respiratory depression, requiring a transfer to the intensive care unit. After a review of the medical history, it was determined that the patient had been admitted on 3 previous occasions due to alcohol withdrawal and had progressed to delirium tremens after experiencing seizures. Can the risk of alcohol withdrawal syndrome and the need for prophylactic treatment be assessed on admission? Were appropriate monitoring and treatment measures employed? Would it have been possible to change his outcome? PMID:25559647

  13. Deep gluteal syndrome.

    PubMed

    Martin, Hal David; Reddy, Manoj; Gómez-Hoyos, Juan

    2015-07-01

    Deep gluteal syndrome describes the presence of pain in the buttock caused from non-discogenic and extrapelvic entrapment of the sciatic nerve. Several structures can be involved in sciatic nerve entrapment within the gluteal space. A comprehensive history and physical examination can orientate the specific site where the sciatic nerve is entrapped, as well as several radiological signs that support the suspected diagnosis. Failure to identify the cause of pain in a timely manner can increase pain perception, and affect mental control, patient hope and consequently quality of life. This review presents a comprehensive approach to the patient with deep gluteal syndrome in order to improve the understanding of posterior hip anatomy, nerve kinematics, clinical manifestations, imaging findings, differential diagnosis and treatment considerations.

  14. Stewart Treves Syndrome*

    PubMed Central

    Pereira, Elisangela Samartin Pegas; de Moraes, Elisa Trino; Siqueira, Daniela Melo; dos Santos, Marcel Alex Soares

    2015-01-01

    Stewart-Treves Syndrome is characterized by the presence of lymphangiosarcoma on limb extremities. Rare, it occurs in 0.5% of patients who have undergone radical mastectomy with axillary node dissection. The main cause is chronic lymphedema with endothelial and lymphatic differentiation, with no direct relationship to breast cancer. Seven years after a radical right-side mastectomy with lymph node dissection and adjuvant therapy, the patient developed a lesion on her right arm. The dermatological examination revealed an erythematous nodule with bleeding surface on chronic right forearm lymphedema. After the biopsy, a lymphangiosarcoma on chronic lymphedema was diagnosed. Infrequent, this syndrome is relevant because of its associated mortality. Early diagnosis is important to improve survival and reduce complications. PMID:26312725

  15. Postthrombotic Syndrome: Surgical Possibilities

    PubMed Central

    Khanna, Ajay K.; Singh, Shivanshu

    2012-01-01

    Postthrombotic syndrome (PTS) is a late outcome of deep vein thrombosis characterized by cramping pain, swelling, hyperpigmentation, eczema, lipodermatosclerosis, and ulceration in the leg due to increased venous outflow resistance and reflux venous flow. Newer surgical and endovascular interventions have a promising result in the management of postthrombotic syndrome. Early surgical or endovascular interventions in appropriately selected patients may decrease the incidence of recurrent ulceration and skin changes and provide a better quality of life. Duplex and IVUS (intravenous ultrasound) along with venography serve as cornerstone investigative tools for assessment of reflux and obstruction. Venous obstruction, if present, should be addressed earlier than reflux. It requires endovenous stenting, endophlebectomy, or open bypass procedures. Venous stripping, foam sclerotherapy, radiofrequency, or laser ablation are used to abolish superficial venous reflux. Valvuloplasty procedures are useful for incompetent but intact deep venous valves, while transposition or axillary vein autotransplantation is done for completely destroyed valves. PMID:22084674

  16. Hypopituitarism and antiphospholipid syndrome.

    PubMed

    Pandolfi, C; Gianini, A; Fregoni, V; Nalli, G; Faggi, L

    1997-12-01

    Vascular damage is a well known cause of hypopituitarism since Sheehan's report of postpartum pituitary necrosis; it has subsequently been reported that also sickle-cell anemia, eclampsia, pituitary apoplexy and other pathologies may induce failure of the anterior hypophysis through this mechanism. The antiphospholipid syndrome (APS) is characterized by widespread arterial and venous thrombosis with resulting different clinical features; Addison's disease due to adrenal thrombosis is the only endocrine involvement reported so far in this syndrome. We report here a case of global anterior pituitary insufficiency which developed soon after cerebral ischaemic stroke in a 62 year aged woman with Lupus aicoagulant activity (LAC) and large atrial thrombosis; underlying pathologies were excluded by appropriate investigations. Therefore in our opinion this is the first case in which anterior hypopituitarism is reported in the clinical constellation of APS and the second type of endocline involvement. PMID:9586417

  17. Metabolic Syndrome, Androgens, and Hypertension

    PubMed Central

    Moulana, Mohadetheh; Lima, Roberta; Reckelhoff, Jane F.

    2013-01-01

    Obesity is one of the constellation of factors that make up the definition of the metabolic syndrome. Metabolic syndrome is also associated with insulin resistance, dyslipidemia, hypertriglyceridemia, and type 2 diabetes mellitus. The presence of obesity and metabolic syndrome in men and women is also associated with increased risk of cardiovascular disease and hypertension. In men, obesity and metabolic syndrome are associated with reductions in testosterone levels. In women, obesity and metabolic syndrome is associated with increases in androgen levels. In men reductions in androgen levels is associated with inflammation. Androgen supplements reduce inflammation in men. In women, increases in androgens are associated with increases in inflammatory cytokines, and reducing androgens reduces inflammation. In this review the possibility that androgens may have different effects on metabolic syndrome and its sequelae in males and females will be discussed. PMID:21274756

  18. DRESS syndrome in ophthalmic patients.

    PubMed

    Sousa, Jacqueline Martins de; Nascimento, Heloisa; Belfort, Rubens

    2016-01-01

    Drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome is a rare and potentially fatal adverse drug reaction associated with skin rash, fever, eosinophilia, and multiple organ injury. A number of pharmacological agents are known to cause DRESS syndrome such as allopurinol, anticonvulsants, vancomycin, trimethoprime-sulfamethoxazole, and pyrimethamine-sulfadiazine. Here, we describe two patients who developed DRESS syndrome during ocular treatment. The first case was being treated for late postoperative endophthalmitis with topical antibiotics, intravenous cephalothin, meropenem, and intravitreal injection of vancomycin and ceftazidime before symptoms developed. We were unable to identify the causal drug owing to the large number of medications concurrently administered. The second case presented with DRESS syndrome symptoms during ocular toxoplasmosis treatment. In this case, a clearer association with pyrimethamine-sulfadiazine was observed. As a result of the regular prescription of pharmacological agents associated with DRESS syndrome, ophthalmologists should be aware of the potentially serious complications of DRESS syndrome. PMID:27463633

  19. Sick sinus syndrome.

    PubMed

    Wahls, S A

    1985-03-01

    Disease in the sinus node may cause bradyarrhythmias or tachyarrhythmias. Bradyarrhythmias occur because of impaired automaticity (with or without sinus arrest) or because of sinus node exit block. Reentrant or automatic rhythms may produce tachyarrhythmias. Symptoms and signs of sick sinus syndrome include lightheadedness, palpitation, syncope and peripheral or cerebral emboli. After diagnosis by Holter monitoring, symptomatic patients usually improve with placement of a permanent cardiac pacemaker. PMID:3976454

  20. Klinefelter syndrome: Case report

    PubMed Central

    CAPASSO, F.; PANETTA, F.; IERARDO, G.; PARISELLA, V.; POLIMENI, A.

    2010-01-01

    SUMMARY Objectives. The aim of this work is to describe the problems of child dentistry affected by Klinefelter's syndrome. Methodos. Through the presentation of a clinical case that was followed by a Pediatric Dentistry, University Sapienza of Rome. Result. Interceptive therapy aims to eliminate the functional interference that occurs during growth. Conclusion. For this reason it’s a must for the dentist to carefully monitor the oral health of the small patient immediately. PMID:23285366

  1. Dry eye syndrome.

    PubMed

    Javadi, Mohammad-Ali; Feizi, Sepehr

    2011-07-01

    Our understanding of keratoconjunctivitis sicca (KCS), also known as dry eye syndrome, has been changed over recent years. Until lately, the condition was thought to be merely due to aqueous tear insufficiency. Today, it is understood that KCS is a multifactorial disorder due to inflammation of the ocular surface and lacrimal gland, neurotrophic deficiency and meibomian gland dysfunction. This change in paradigm has led to the development of new and more effective medications.

  2. Superior mesenteric artery syndrome.

    PubMed Central

    Ahmed, A. R.; Taylor, I.

    1997-01-01

    Superior mesenteric artery syndrome is a rare and controversial form of upper intestinal obstruction in which the third part of the duodenum is compressed by the overlying superior mesenteric artery. Any disease process decreasing the angle between the superior mesenteric artery and the abdominal aorta can result in the external compression of the duodenum and subsequent intestinal obstruction. The aetiology, presentation, investigation and management of this unusual condition are discussed. PMID:9497945

  3. Tics and Tourette syndrome.

    PubMed

    Shaw, Zoey A; Coffey, Barbara J

    2014-09-01

    Tourette syndrome is a childhood onset neurodevelopmental disorder characterized by multiple motor and vocal tics. Although many youth experience attenuation or even remission of tics in adolescence and young adulthood, some individuals experience persistent tics, which can be debilitating or disabling. Most patients also have 1 or more psychiatric comorbid disorders, such as attention-deficit/hyperactivity disorder or obsessive-compulsive disorder. Treatment is multimodal, including both pharmacotherapy and cognitive-behavioral treatment, and requires disentanglement of tics and the comorbid symptoms.

  4. Gitelman syndrome and pregnancy

    PubMed Central

    Moustakakis, Michael N.; Bockorny, Margarita

    2012-01-01

    Gitelman syndrome (GS) is an autosomal-recessive condition characterized by hypokalemia, hypomagnesemia and hypocalciuria. Very little information is available in the literature to guide the management of pregnant patients with GS. We report a case of a 27-year-old woman with GS who became pregnant and despite persistent hypokalemia and hypomagnesemia during pregnancy and labor, had a successful maternal and fetal outcome. PMID:26064481

  5. [Peutz-Jeghers syndrome].

    PubMed

    Cervantes Bustamante, Roberto; Ocampo del Prado, Luis Carlos; Zárate Mondragón, Flora; Mata Rivera, Norberto; Ramírez-Mayans, Jaime A; Mora Tiscareño, María Antonieta; García Campos, L N

    2003-01-01

    Peutz-Jeghers syndrome is an autonomic dominant disease characterized by hamartomatous polyps and mucocutaneous hyperpigmentation. We present 16 cases; females were more affected. The most common presenting complaints were of gastrointestinal tract. All polyps found were hamartomatous with general distribution through gastrointestinal tract. Endoscopic polypectomy should be carried out for treatment. Radiologic, endoscopic and histologic studies should be conducted for long-term follow-up, because of high risk of malignancy.

  6. [Acute coronary syndromes: epidemiology].

    PubMed

    Ozkan, Alev Arat

    2013-04-01

    Coronary heart disease is the main cause of death in the world as well as in Turkey. It's not only a health issue but also a social problem with a high economic burden and negative impact on quality of life. The majority of deaths are attributable to acute coronary syndromes (ACS) and their complications.This review summarizes some important facts regarding ACS epidemiology in the world and in Turkey. PMID:27323430

  7. [Popliteal artery entrapment syndrome].

    PubMed

    Musumeci, S; Iuppa, A; Beneventano, G; Rinella, P; Mammano, M; Cinquegrani, E

    1986-12-15

    Trapped popliteal artery syndrome is relatively uncommon: the literature reports some 60 cases. The clinical picture is linked to compression of the popliteal artery by the gastrocnemius as it contracts, thus distorting the arterial route. The result is an interruption in the blood flow distally to the area involved due to stenosis of the blood vessel that is at first functional but becomes organic. PMID:3808379

  8. Warburg Micro syndrome.

    PubMed

    Dursun, Fatma; Güven, Ayla; Morris-Rosendahl, Deborah

    2012-01-01

    Micro syndrome is an autosomal recessive disorder characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis, or hypoplasia of the corpus callosum and hypogenitalism. We report an 11-month-old boy who was referred for assessment of micropenis and cryptorchidism. Sequence analysis of exon 8 of the RAB3GAP1 gene confirmed the presence of a splice donor mutation (748+1G>A) in the homozygous state.

  9. Treacher Collins syndrome.

    PubMed

    Shete, Prachi; Tupkari, Jv; Benjamin, Tabita; Singh, Aarti

    2011-09-01

    Treacher Collins syndrome (TCS) is a rare autosomal dominant disorder of craniofacial development. It is a congenital malformation of first and second branchial arch which may affect the size and shape of the ears, eyelids, cheek bones, and jaws. The extent of facial deformity varies from one affected individual to another. A case of 20-year-old boy having TCS is briefly described in this article.

  10. Genetics of Takotsubo Syndrome.

    PubMed

    Limongelli, Giuseppe; Masarone, Daniele; Maddaloni, Valeria; Rubino, Marta; Fratta, Fiorella; Cirillo, Annapaola; Ludovica, Spinelli Barrile; Pacileo, Roberta; Fusco, Adelaide; Coppola, Guido Ronald; Pisacane, Francesca; Bossone, Eduardo; Calabrò, Paolo; Calabrò, Raffaele; Russo, Maria Giovanna; Pacileo, Giuseppe

    2016-10-01

    Takotsubo syndrome (TTS) is an enigmatic disease with a multifactorial and still unresolved pathogenesis. A genetic predisposition has been suggested based on the few familial TTS cases. Conflicting results have been published regarding the role of functional polymorphisms in relevant candidate genes, such as α1-, β1-, and β2-adrenergic receptors; G protein-coupled receptor kinase 5; and estrogen receptors. Further research is required to help clarify the role of genetic susceptibility in TTS. PMID:27638020

  11. Ear, Nose & Throat Issues & Down Syndrome

    MedlinePlus

    ... Throat Issues & Down Syndrome Ear, Nose & Throat Issues & Down Syndrome Ear, nose, and throat (ENT) problems are common ... What ENT Problems Are Common in Children With Down Syndrome? External Ear Canal Stenosis Stenotic ear canals (narrow ...

  12. Genetics Home Reference: congenital central hypoventilation syndrome

    MedlinePlus

    ... central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death. Pediatr Pulmonol. 2008 Jan;43(1):77-86. ... Rand CM. Congenital central hypoventilation syndrome (CCHS) and sudden infant death syndrome (SIDS): kindred disorders of autonomic regulation. Respir ...

  13. Genetics Home Reference: otopalatodigital syndrome type 2

    MedlinePlus

    ... Conditions otopalatodigital syndrome type 2 otopalatodigital syndrome type 2 Enable Javascript to view the expand/collapse boxes. ... Open All Close All Description Otopalatodigital syndrome type 2 is a disorder involving abnormalities in skeletal development ...

  14. Genetics Home Reference: otopalatodigital syndrome type 1

    MedlinePlus

    ... Conditions otopalatodigital syndrome type 1 otopalatodigital syndrome type 1 Enable Javascript to view the expand/collapse boxes. ... Open All Close All Description Otopalatodigital syndrome type 1 is a disorder primarily involving abnormalities in skeletal ...

  15. Genetics Home Reference: 3-M syndrome

    MedlinePlus

    ... Understand Genetics Home Health Conditions 3-M syndrome 3-M syndrome Enable Javascript to view the expand/ ... boxes. Download PDF Open All Close All Description 3-M syndrome is a disorder that causes short ...

  16. Thalidomide in Treating Patients With Myelodysplastic Syndrome

    ClinicalTrials.gov

    2013-01-23

    Chronic Myelomonocytic Leukemia; de Novo Myelodysplastic Syndromes; Previously Treated Myelodysplastic Syndromes; Refractory Anemia; Refractory Anemia With Excess Blasts; Refractory Anemia With Excess Blasts in Transformation; Refractory Anemia With Ringed Sideroblasts; Secondary Myelodysplastic Syndromes

  17. Genetics Home Reference: Wolf-Hirschhorn syndrome

    MedlinePlus

    ... Understand Genetics Home Health Conditions Wolf-Hirschhorn syndrome Wolf-Hirschhorn syndrome Enable Javascript to view the expand/ ... boxes. Download PDF Open All Close All Description Wolf-Hirschhorn syndrome is a condition that affects many ...

  18. Genetics Home Reference: Russell-Silver syndrome

    MedlinePlus

    ... Genetics Home Health Conditions Russell-Silver syndrome Russell-Silver syndrome Enable Javascript to view the expand/collapse ... Download PDF Open All Close All Description Russell-Silver syndrome is a growth disorder characterized by slow ...

  19. Genetics Home Reference: Smith-Magenis syndrome

    MedlinePlus

    ... Understand Genetics Home Health Conditions Smith-Magenis syndrome Smith-Magenis syndrome Enable Javascript to view the expand/ ... boxes. Download PDF Open All Close All Description Smith-Magenis syndrome is a developmental disorder that affects ...

  20. Genetics Home Reference: Dubin-Johnson syndrome

    MedlinePlus

    ... Genetics Home Health Conditions Dubin-Johnson syndrome Dubin-Johnson syndrome Enable Javascript to view the expand/collapse ... Download PDF Open All Close All Description Dubin-Johnson syndrome is a condition characterized by jaundice, which ...

  1. [Pharmacologic treatment of Asperger syndrome].

    PubMed

    Yamada, Satoru

    2007-03-01

    Asperger syndrome is associated with various dysfunctional and problematic behaviors, in addition to the core features of communication and social skills dysfunction that define these conditions. Although there is currently no pharmacologic cure for the core features of Asperger syndrome. This article discusses the various medications for the behavioral symptoms of Asperger syndrome, which include hyperactivity, aggression, tantrums, self-injury, depression, obsession and so on. Methylphenidate, SSRIs, atypical antipsychotics and mood stabilizer were introduced.

  2. [Current aspects of Turner syndrome].

    PubMed

    Battin, J

    1996-06-01

    Recent progress in the clinical, genetic and therapeutic knowledges of Turner's syndrome are presented. The quality of life of Turner's syndrome can be much improved by early treatment with recombinant human growth hormone which significantly increases the patient's final height, and appropriate oestrogenic therapy at pubertal and adult ages. However, this requires an early diagnosis. Consequently, a karyotype must be performed in every girl with delayed growth, even in the absence of clinical features of the Turner's syndrome.

  3. Clinical characteristics of CHARGE syndrome.

    PubMed

    Ahn, B S; Oh, S Y

    1998-12-01

    CHARGE syndrome, first described by Pagon, was named for its six major clinical features. They are: coloboma of the eye, heart defects, atresia of the choanae, retarded growth and development including CNS anomalies, genital hypoplasia and/or urinary tract anomalies, and ear anomalies and/or hearing loss. We experienced three cases of CHARGE syndrome who displayed ocular coloboma, heart defects, retarded growth and development, and external ear anomalies, and we also review the previously reported literature concerning CHARGE syndrome. PMID:10188375

  4. Recognizing and preventing refeeding syndrome.

    PubMed

    Adkins, Susan M

    2009-01-01

    Refeeding syndrome is an uncommon but potentially fatal phenomenon that can occur in patients receiving parenteral, enteral, or oral feedings after a period of sustained malnutrition or starvation. This syndrome is characterized by hypophosphatemia, hypokalemia, and hypomagnesemia. The purpose of this article was to bring an acute awareness of refeeding syndrome to the critical care nurse. The recognition, pathogenesis, clinical manifestations, potential life threatening complications, and treatment are presented.

  5. Treatment of Dravet Syndrome.

    PubMed

    Wirrell, Elaine C

    2016-06-01

    Dravet syndrome is among the most challenging electroclinical syndromes. There is a high likelihood of recurrent status epilepticus; seizures are medically refractory; and patients have multiple co-morbidities, including intellectual disability, behaviour and sleep problems, and crouch gait. Additionally, they are at significant risk of sudden unexplained death. This review will focus predominantly on the prophylactic medical management of seizures, addressing both first-line therapies (valproate and clobazam) as well as second-line (stiripentol, topiramate, ketogenic diet) or later options (levetiracetam, bromides, vagus nerve stimulation). Sodium channel agents-including carbamazepine, oxcarbazepine, phenytoin and lamotrigine-should be avoided, as they typically exacerbate seizures. Several agents in development may show promise, specifically fenfluramine and cannabidiol, but they need further evaluation in randomized, controlled trials. In addition to prophylactic treatment, all patients need home-rescue medication and a status epilepticus protocol that can be carried out in their local hospital. Families must be counselled on non-pharmacologic strategies to reduce seizure risk, including avoidance of triggers that commonly induce seizures (including hyperthermia, flashing lights and patterns). In addition to addressing seizures, holistic care for a patient with Dravet syndrome must involve a multidisciplinary team that includes specialists in physical, occupational and speech therapy, neuropsychology, social work and physical medicine. PMID:27264138

  6. Tourette Syndrome: Update

    PubMed Central

    HALLETT, Mark

    2015-01-01

    Tourette Syndrome is a disorder characterized by tics. It typically begins in childhood and often improves in adult life. Tics are best described as voluntary movements made automatically so that volition is not ordinarily appreciated. There is frequently an urge, sometimes in the form of a specific sensory feeling (sensory tic), that precedes the tic. Patients say that they make the tic in order to reduce the urge, although shortly after the tic, the urge recurs. The sensory feeling may arise due to defective sensory habituation. Since tics relieve the urge, this can be considered rewarding, and repetition of this behavior may perpetuate the tic as a habit. Tourette Syndrome affects boys more than girls and is associated with attention deficit hyperactivity disorder and obsessive compulsive disorder. Although Tourette Syndrome often appears to be autosomal recessive in inheritance, it has been difficult to find any abnormal genes. There is a loss of inhibition in these patients and recent studies show abnormalities in brain GABA. Certainly there is also an abnormality in dopamine function and dopamine blocking agents are effective therapy. In severe drug-refractory patients, deep brain stimulation can be effective. PMID:25604739

  7. Surgery for Tourette syndrome.

    PubMed

    Ackermans, Linda; Kuhn, Jens; Neuner, Irene; Temel, Yasin; Visser-Vandewalle, Veerle

    2013-01-01

    Tourette syndrome is a chronic neuropsychiatric disorder characterized by motor and vocal tics. In the majority of cases, tics are associated by behavioral disorders such as obsessive-compulsive behavior. First symptoms typically appear in early childhood. Mostly symptoms disappear when adulthood is reached. Treatment options consist of behavioral therapy and medication. In refractory cases, surgery may be an option. In the past, several attempts have been made to treat therapy-refractory patients through neurosurgical ablative procedures. In 1999, deep brain stimulation was introduced as a novel treatment option for patients with intractable Tourette syndrome. Up until now, five brain areas have been used or suggested as potential target areas for deep brain stimulation in Tourette syndrome. In the majority of the published cases, there is a clear effect on tics but most studies consist of only a limited number of patients. A strict patient selection is absolutely mandatory. There is a need for double-blinded multicenter trials with inclusion of more patients. PMID:22722039

  8. Drug hypersensitivity syndrome.

    PubMed

    Kumari, Rashmi; Timshina, Dependra K; Thappa, Devinder Mohan

    2011-01-01

    Drug hypersensitivity syndrome (DHS) is an adverse drug reaction commonly associated with the aromatic antiepileptic drugs (AEDs), viz., phenytoin (PHT), carbamazepine (CBZ), phenobarbital (PB), lamotrigine, primidone, etc. It can also be caused by other drugs, such as sulfonamides, dapsone, minocycline, gold derivatives, cyclosporine, captopril, diltiazem, terbinafine, azathioprine and allopurinol. Diagnosis of DHS may be difficult because of the variety of clinical and laboratory abnormalities and manifestations and because the syndrome may mimic infectious, neoplastic or collagen vascular disorders. The risk for developing hypersensitivity within 60 days of the first or second prescription in new users of PHT or CBZ was estimated to be 2.3-4.5 per 10,000 and 1-4.1 per 10,000, respectively. The syndrome is defined by the fever, skin rash, lymphadenopathy and internal organ involvement within the first 2-8 weeks after initiation of therapy. Internal manifestations include, among others, agranulocytosis, hepatitis, nephritis and myositis. Insufficient detoxification may lead to cell death or contribute to the formation of antigen that triggers an immune reaction. Cross-reactivity among PHT, CBZ and PB is as high as 70%-80%. Management mainly includes immediate withdrawal of the culprit drug, symptomatic treatment and systemic steroids or immunoglobulins.

  9. Poland's syndrome revisited.

    PubMed

    Fokin, Alexander A; Robicsek, Francis

    2002-12-01

    Poland's syndrome is a rare congenital anomaly characterized by unilateral chest wall hypoplasia and ipsilateral hand abnormalities. Literary data suggest its sporadic nature. The prevailing theory of its cause is hypoplasia of the subclavian artery or its branches, which may lead to a range of developmental changes. The incidence of Poland's syndrome varies between groups (male versus female patients, congenital versus familial cases, and so on) and ranges from 1 in 7,000 to 1 in 100,000 live births. Cases of Poland's syndrome associated with leukemia, carcinoma of the hypoplastic breast, and other conditions, confirm the relationship between developmental defects and tumors, and require oncologic awareness. Various manifestations, age, and gender require different surgical approaches. Our experience, which includes 27 patients (15 male, 12 female), 20 of whom (12 male, 8 female) underwent operation, suggests that the repair should be done in two stages in children and in a single stage in adults. Reconstruction and/or stabilization of the aplastic ribs may be achieved using bone grafts or prosthetic mesh. Muscle flaps and breast implants may be used to correct muscle deficiency and breast hypoplasia and to help achieve a complete cosmetic repair. PMID:12643435

  10. The fragile X syndrome.

    PubMed Central

    de Vries, B B; Halley, D J; Oostra, B A; Niermeijer, M F

    1998-01-01

    The fragile X syndrome is characterised by mental retardation, behavioural features, and physical features, such as a long face with large protruding ears and macro-orchidism. In 1991, after identification of the fragile X mental retardation (FMR1) gene, the cytogenetic marker (a fragile site at Xq27.3) became replaced by molecular diagnosis. The fragile X syndrome was one of the first examples of a "novel" class of disorders caused by a trinucleotide repeat expansion. In the normal population, the CGG repeat varies from six to 54 units. Affected subjects have expanded CGG repeats (>200) in the first exon of the FMR1 gene (the full mutation). Phenotypically normal carriers of the fragile X syndrome have a repeat in the 43 to 200 range (the premutation). The cloning of the FMR1 gene led to the characterisation of its protein product FMRP, encouraged further clinical studies, and opened up the possibility of more accurate family studies and fragile X screening programmes. Images PMID:9678703

  11. Andersen-Tawil Syndrome

    PubMed Central

    Smith, Andrew H; Fish, Frank A; Kannankeril, Prince J

    2006-01-01

    Andersen-Tawil syndrome (ATS) is a rare condition consisting of ventricular arrhythmias, periodic paralysis, and dysmorphic features. In 2001, mutations in KCNJ2, which encodes the a subunit of the potassium channel Kir2.1, were identified in patients with ATS. To date, KCNJ2 is the only gene implicated in ATS, accounting for approximately 60% of cases. ATS is a unique channelopathy, and represents the first link between cardiac and skeletal muscle excitability. The arrhythmias observed in ATS are distinctive; patients may be asymptomatic, or minimally symptomatic despite a high arrhythmia burden with frequent ventricular ectopy and bidirectional ventricular tachycardia. However, patients remain at risk for life-threatening arrhythmias, including torsades de pointes and ventricular fibrillation, albeit less commonly than observed in other genetic arrhythmia syndromes. The characteristic heterogeneity at both the genotypic and phenotypic levels contribute to the continued difficulties with appropriate diagnosis, risk stratification, and effective therapy. The initial recognition of a syndromic association of clinically diverse symptoms, and the subsequent identification of the underlying molecular genetic basis of ATS has enhanced both clinical care, and our understanding of the critical function of Kir2.1 on skeletal muscle excitability and cardiac action potential. PMID:16943893

  12. [Polycystic ovary syndrome (PCOS)].

    PubMed

    Torre, A; Fernandez, H

    2007-09-01

    Polycystic ovaries syndrome (PCOS) is one of the most common female hormonal disorders. Its multiple components--reproductive, metabolic, neoplasic and cardiovascular--have a major impact on the public health. Androgen excess and resistance to insulin, probably from genetic origin, are responsible for most of the clinical symptomatology. Resistance to insulin seems to be accompanied by a greater risk of glucose intolerance, type 2 diabetes, lipidic anomalies and can involve the development of cardiovascular diseases. In addition, sleep apnea syndrome is more progressively described in PCOS. Infertility, menses disorders and hirsutism often push these patients to consult their physician. A better understanding of the physiopathological mechanisms led to the emergence of new therapeutic options increasing the sensitivity to insulin. Besides the pregnancy wishes, cares aim to attenuate the marks of the hyper-androgenism (hormonal treatment and cosmetic) and to correct cardiovascular, respiratory and gynaecological risk factors. In case of infertility by anovulation, cares must be performed by trained experts to minimize the risk of ovarian hyper-stimulation syndrome and multiple pregnancies. A gradation from loose weight to clomiphene citrate ovulation induction, ovarian drilling, low dose gonadotropin, in vitro fertilisation, or in vitro maturation of oocytes should bring back good reproduction potential.

  13. The nutcracker syndrome.

    PubMed

    Venkatachalam, Sridhar; Bumpus, Kelly; Kapadia, Samir R; Gray, Bruce; Lyden, Sean; Shishehbor, Mehdi H

    2011-11-01

    Left renal vein (LRV) compression, commonly referred to as the nutcracker syndrome or renal vein entrapment syndrome, is a rare and often overlooked condition. Anatomically, the LRV traverses the space between the superior mesenteric artery and the aorta in close proximity to the origin of the artery. In affected individuals, the LRV is subjected to compression between these two structures, resulting in renal venous hypertension. A review of published data on this condition reveals either case reports or small case series. The classic symptoms of nutcracker syndrome include left flank pain with gross or microscopic hematuria. Patients are often children or young adults, with a slight predisposition for women who may also present with pelvic congestion symptoms such as pelvic pain and dyspareunia. Most patients have disease symptoms for many years and nondiagnostic investigations before proper diagnosis can be made. Appropriate diagnostic work-up and treatment may help alleviate patient morbidity from this chronic condition. Although surgical repair has been the standard of care, more recently endovascular intervention has become the first line of therapy. This tabular review compiles published cases in the adult population during the period between 1980 and 2009.

  14. [Van-der-Woude Syndrome].

    PubMed

    Del Frari, B; Amort, M; Janecke, A R; Schutte, B C; Piza-Katzer, H

    2008-01-01

    We report on two families with different expression of a Van-der-Woude-Syndrome (VWS) and with proven mutation of the IRF6- gene. The Van-der-Woude syndrome is a rare disease, typically consisting of congenital pits of the lower lip in combination with cleft lip or cleft palate or both. The Van-der-Woude syndrome is an autosomal dominant syndrome with variable expression. The penetrance is between 0,89 and 0,99. It is important to establish the correct diagnosis by careful investigation of patients with cleft lip or cleft palate and their parents. Genetic counselling is recommended in such cases. PMID:18095255

  15. Arteriovenous malformations in Cowden syndrome.

    PubMed

    Turnbull, M M; Humeniuk, V; Stein, B; Suthers, G K

    2005-08-01

    Cowden syndrome (OMIM No 158350) is a pleomorphic, autosomal dominant syndrome characterised by hamartomas in tissues derived from the endoderm, mesoderm, and ectoderm. It is caused by germline mutations in the PTEN gene and is allelic to the Bannayan-Riley-Ruvalcaba and Lhermitte-Duclos syndromes. The three syndromes are defined on clinical grounds but there is overlap in their definitions. The clinical features include trichilemmomas, verrucose lesions of the skin, macrocephaly, intellectual disability, cerebellar gangliocytoma, thyroid adenomas, fibroadenomas of the breast, and hamartomatous colonic polyps. Cutaneous haemangiomas are occasionally noted. Malignancies often arise in the affected tissues. Visceral arteriovenous malformations are a recognised component of the Bannayan-Riley-Ruvalcaba syndrome but have been reported rarely in Cowden syndrome. A family is described with a clinical diagnosis of Cowden syndrome, a familial frameshift mutation in the PTEN gene, and large visceral arteriovenous malformations. The association of these pleomorphic syndromes with arteriovenous malformations can be explained by the putative role of the PTEN gene in suppressing angiogenesis. Recognition of arteriovenous malformations as a clinical feature of Cowden syndrome has implications for the clinical management of patients with this disorder. PMID:16061556

  16. Overgrowth syndromes with vascular anomalies.

    PubMed

    Blei, Francine

    2015-04-01

    Overgrowth syndromes with vascular anomalies encompass entities with a vascular anomaly as the predominant feature vs those syndromes with predominant somatic overgrowth and a vascular anomaly as a more minor component. The focus of this article is to categorize these syndromes phenotypically, including updated clinical criteria, radiologic features, evaluation, management issues, pathophysiology, and genetic information. A literature review was conducted in PubMed using key words "overgrowth syndromes and vascular anomalies" as well as specific literature reviews for each entity and supportive genetic information (e.g., somatic mosaicism). Additional searches in OMIM and Gene Reviews were conducted for each syndrome. Disease entities were categorized by predominant clinical features, known genetic information, and putative affected signaling pathway. Overgrowth syndromes with vascular anomalies are a heterogeneous group of disorders, often with variable clinical expression, due to germline or somatic mutations. Overgrowth can be focal (e.g., macrocephaly) or generalized, often asymmetrically (and/or mosaically) distributed. All germ layers may be affected, and the abnormalities may be progressive. Patients with overgrowth syndromes may be at an increased risk for malignancies. Practitioners should be attentive to patients having syndromes with overgrowth and vascular defects. These patients require proactive evaluation, referral to appropriate specialists, and in some cases, early monitoring for potential malignancies. Progress in identifying vascular anomaly-related overgrowth syndromes and their genetic etiology has been robust in the past decade and is contributing to genetically based prenatal diagnosis and new therapies targeting the putative causative genetic mutations. PMID:25937473

  17. Nevoid basal cell carcinoma syndrome.

    PubMed

    Karthiga, Kannan S; Sivapatha Sundharam, B; Manikandan, R

    2006-01-01

    Binkley and Johnson first reported this syndrome in 1951. But it was in 1960, Gorlin-Goltz established the association of basal cell epithelioma, jaw cyst and bifid ribs, a combination which is now frequently known as Gorlin-Goltz syndrome as well as Nevoid Basal Cell Carcinoma Syndrome (NBCCS). NBCCS is inherited as an autosomal dominant trait with high penetrance and variable expressivity. NBCCS is characterized by variety of cutaneous, dental, osseous, opthalmic, neurologic and sexual abnormalities. One such case of Gorlin-Goltz syndrome is reported here with good illustrations.

  18. Parietal cheiro-oral syndrome.

    PubMed

    Yasuda, Y; Watanabe, T; Ogura, A

    2000-12-01

    Cheiro-oral syndrome due to a parietal lesion has been reported in conjuction with a brain tumor, infarction and migraine. Only six reports of cheiro-oral syndrome due to a parietal infarction have been reported to date. We treated a 45-year-old woman with cheiro-oral syndrome due to a parietal infarction. Her sensory disturbance was characterized by paresthesia in the lower face and hand on the left side, and severe involvement of stereognosis and graphesthesia in the left hand. The pathogenesis of parietal cheiro-oral syndrome is discussed.

  19. [Prevention of the refeeding syndrome].

    PubMed

    Martínez Núñez, Maria E; Hernández Muniesa, B

    2010-01-01

    The refeeding syndrome can be defined as the metabolic alterations developed by the rapid nutrition repletion (oral, enteral as well as parenteral feeding) of severaly malnourished patients. Refeeding syndrome is a potentially fatal clinical condition and it is often underdiagnosed on non-specialized nutrition units. The most important key for its prevention is to identify patients at high risk for developing refeeding syndrome, before nutrition repletion. The present case describes the steps to prevent the refeeding syndrome as well as the clinical recommendations to restart nutrition support.

  20. Nelson syndrome: definition and management.

    PubMed

    Barber, T M; Adams, E; Wass, J A H

    2014-01-01

    Nelson syndrome is an important complication of treatment with total bilateral adrenalectomy (TBA) for patients with refractory Cushing's disease. Although early cases of Nelson syndrome often presented with the clinical features of large sellar masses, the modern face of Nelson syndrome has changed primarily due to earlier detection (with highly resolved magnetic resonance imaging (MRI) and sensitive ACTH assays) and greater awareness of the condition, resulting in reduced morbidity and mortality. Although lack of administration of neoadjuvant pituitary radiotherapy post-TBA surgery may predict future development of Nelson syndrome, other predictive factors remain controversial. Therefore, Nelson syndrome should be screened for closely and long-term in all patients with a history of Cushing's disease and TBA. The diagnosis of Nelson syndrome remains controversial, and the pathogenesis of this condition is incompletely understood. Current hypotheses include the "released negative feedback" mechansism (residual pituitary corticotropinoma cells are "released" from the negative feedback effects of cortisol following TBA), and the "aggressive corticotropinoma" mechanism (Nelson syndrome is most likely to develop in those patients with refractory treatments - including TBA - for an underlying aggressive corticotropinoma). Effective management of Nelson syndrome with pituitary surgery and radiotherapy is often a challenge. Other therapies (such as Gamma Knife surgery and temozolomide) play an important role and merit further research into their efficacy and placement in the management pathway of Nelson syndrome. PMID:25248597