Larbre et al. (1969) reported a 10-year-old girl with congenital lipase deficiency who developed chronic greasy diarrhea at 10 months of age when breastfeeding was discontinued and whole milk introduced into her diet. She was otherwise healthy and had normal growth and development; she had 2 younger brothers who were healthy. ... Behar et al. (2014) reported 15- and 19-year-old brothers, born to healthy first-cousin parents of Arab Muslim origin from central Israel, who had voluminous greasy stools from the first postnatal days of feeding. ... Hildebrand et al. (1982) stated that this was the first report of isolated colipase deficiency, and noted that either lipase or colipase deficiency results in the same pattern of decreased fat absorption. ... Ghishan et al. (1984) stated that this was the first report of congenital combined lipase and colipase deficiency.
A rare disorder of lipid metabolism characterized by childhood onset of steatorrhea due to isolated pancreatic colipase deficiency, while other exocrine pancreatic enzymes are normal. Early formation of gallstones, as well as vitamin B12 deficiency with megaloblastic anemia have also been reported. There have been no further descriptions in the literature since 1982.
SDS is caused by a Fusarium fungi, more specifically the soil-borne root pathogen Fusarium virguliforme, formerly known as Fusarium solani f. sp. glycines . [1] Losses could exceed hundreds of millions of dollars in US soybean markets alone making it one of the most important diseases found in Soybeans across the US. [1] Contents 1 Importance 2 Symptoms and signs 3 Disease cycle 4 Environmental factors 5 Disease development 6 Management 7 References Importance [ edit ] Sudden Death Syndrome (SDS) has become one of the most impactful yield-reducing diseases in North American soybeans. After making its first appearance in Arkansas in 1971 SDS soon spread to the surrounding states of Tennessee and Mississippi, and then traveled up the Mississippi River to Midwestern states. [2] Currently, the disease affects an area stretching from South Dakota to North Carolina, putting the majority of American soybean producers at risk. The disease has the potential to cause up to 80% yield loss, making it a devastating disease for producers if not detected early and managed correctly. [2] Its presence is currently increasing in northern Midwest states and western Corn Belt states including Minnesota, Nebraska, and Wisconsin, and may coincide with the spread of the Soybean Cyst Nematode (SCN). [2] Symptoms and signs [ edit ] Most of the SDS symptoms can be confused with other factors like nutrient deficiencies and some other diseases like brown stem rot and stem canker. [3] Usually the first symptom seen is interveinal chlorosis, which is the yellowing of the plant material between the leaf veins. [4] When leaves begin to die, puckering and mottling can also be observed along with the chlorosis. [5] As severity increases, necrosis (death of cells) occurs and eventually these leaves will fall off, leaving only petioles left on the stem. [6] If the conditions are right (cool and wet), these symptoms can appear suddenly, causing large yield reductions. ... If a soybean stem with SDS is split, the pith will be visibly white while the cortical tissue around the pith will be tan to light brown in color. [3] [1] If the pith is brown in color (or if the whole stem looks brown on the inside), it is likely that the plant has brown stem rot, rather than SDS. [3] Along with the above-ground foliar and stem symptoms, the roots usually show some kind of rotting and decrease in vigor compared to other healthy soybean roots. [1] If soil conditions are moist, roots are also likely to show blue masses of spores (macroconidia) around the taproot just below the soil surface. [1] Blue fungal masses, found along with the foliar and stem symptoms, are strong diagnostic indicators for SDS. [1] Disease cycle [ edit ] F. virguliforme overwinters as asexual macroconidium and chlamydospores and currently, no research has found a successful sexual stage with this pathogen. [1] When conditions are favorable, these spores germinate on seedling roots and infect the plant. From the V1 to R1 stages (seedling to first flower) of soybean growth, the fungus colonizes within the plant cortex and only goes up the stem a few inches above the soil surface. [1] Toxins are produced when the pathogen colonizes the lower parts of the soybean cortex. ... The fungus then moves up the plant and infects the vascular tissue, causing a brown color within the cortex around the pith of the plant a few inches above the soil surface. [1] Toxins are produced by the fungus when it colonizes the cortex and are sent up the stem to the leaves, causing the above-ground symptoms around first flower during mid-summer. [1] While infection occurs early in the season, symptoms do not normally appear until mid-summer. [11] SDS also has a synergistic relationship with Soybean Cyst Nematode (SCN).
Sergei Portugalov of the Institute for Physical Culture, who stands accused of organising state-sponsored doping in the Soviet Union, dating back to the early 1980s, was also involved in the recent Russian doping programme. [5] 2015 [ edit ] See also: Russia at the 2012 Summer Olympics § Russian doping scandal In January 2015, then- All-Russia Athletic Federation President Valentin Balakhnichev resigned as treasurer of the International Association of Athletics Federations (IAAF). [22] Dick Pound led the 2015 WADA investigation and became a vocal critic of the IOC's indecision In response to the ARD documentary, WADA commissioned an investigation headed by former anti-doping agency President Dick Pound , the report of which was published on 9 November 2015. [23] [24] The 335-page document, described as "damning" by The Guardian , [25] reported widespread doping and large-scale cover-ups by the Russian authorities. ... The report claimed that from 2011 to 2015, more than 1,000 Russian competitors in various sports (including summer, winter, and Paralympic sports) benefited from the cover-up. [80] [81] [82] [83] However, McLaren later walked back from that assertion when the cases went to court, rephrasing it as not a fact but only a possibility, as recorded on page 68 of the CAS verdict for Alexander Legkov: "Prof. ... After Reuters notified it of the two cases RUSADA said it would investigate. [166] The first cases of possible Anti-Doping violations against Russian athletes' samples taken from the Moscow Laboratory were handed over to the individual sporting federations in July. [167] WADA said that the data of 43 athletes had been handed over out of a target pool of 298 athletes. The first sporting federation to suspend athletes from the data received was the International Weightlifting Federation who suspended 12 Russian weightlifters including Olympic, World and European medalists. [168] September to December 2019 [ edit ] On 21 September, it was widely reported that some of the data retrieved from the Moscow laboratory may have been manipulated and tampered with before it was retrieved by the World Anti-Doping Agency. ... The 2020 Summer Olympics were later delayed until 2021 due to the ongoing COVID-19 pandemic . [180] On 30 April, WADA announced that they had completed their 'painstaking' investigation of the 298 Russian athletes whose data they had received from the Moscow laboratory in January 2019. The first data was handed over in July and a total of 27 international sporting federations and one major event organisation received the data in order to decide on possible anti-doping violations being brought forward. [181] July to December 2020 [ edit ] The Russian athletics federation failed to pay half of its $10 million World Athletics fine by 1 July.
Please help improve it or discuss these issues on the talk page . ( Learn how and when to remove these template messages ) This article is written like a personal reflection, personal essay, or argumentative essay that states a Wikipedia editor's personal feelings or presents an original argument about a topic. ... Also referred to as thanatophobia (fear of death), death anxiety is distinguished from necrophobia , which is a specific fear of dead or dying people and/or things; the latter is the fear of others who are dead or dying, whereas the former concerns one's own death or dying. [1] Additionally, there is anxiety caused by death-recent thought-content , [2] which might be classified within a clinical setting by a psychiatrist as morbid and/or abnormal , which for classification pre-necessitates a degree of anxiety which is persistent and interferes with everyday functioning. [3] [4] Lower ego integrity , more physical problems and more psychological problems are predictive of higher levels of death anxiety in elderly people perceiving themselves close to death. [5] Death anxiety can cause extreme timidness with a person's attitude towards discussing anything to do with death. [6] Contents 1 Types 1.1 Predatory death anxiety 1.2 Predation or predator 1.3 Existential 2 Theories 2.1 Thanatophobia 2.2 Wisdom: ego integrity vs. despair 2.3 Terror management theory 2.4 Being, time and Dasein 2.5 Meaning management theory 2.6 Other theories 2.7 Personal meanings of death 2.8 Religiosity 3 Children 4 Relationship to adult attachment 5 Sexes 6 Age 7 Measuring 8 See also 9 References 10 Bibliography Types [ edit ] Robert Langs distinguishes three types of death anxiety: [7] [8] [9] Predatory death anxiety [ edit ] Predatory death anxiety arises from the fear of being harmed. [7] [8] [9] It is the most basic and oldest [10] : 615 form of death anxiety, with its origins in the first unicellular organisms ' set of adaptive resources. ... Macmillan International Higher Education. ISBN 978-0-230-62953-0 . [ page needed ] ^ a b c d e Castano, Emanuele; Leidner, Bernhard; Bonacossa, Alain; Nikkah, John; Perrulli, Rachel; Spencer, Bettina; Humphrey, Nicholas (August 2011). ... PMID 14694764 . ^ Schacter, Daniel L. "Psychology" 2011. Chapter 12, page 488. ^ Yalom, Irvin D. (2008). "Rippling" .
Don't start taking a daily aspirin without talking to your health care provider first. Clot-preventing drugs. Certain medications such as clopidogrel (Plavix), prasugrel (Effient) and ticagrelor (Brilinta) make blood platelets less likely to stick together, so blood doesn't clot. ... Eat a healthy diet low in salt and saturated and trans fats and rich in whole grains, fruits and vegetables. Manage other health conditions. ... Your health care provider may ask: When did you first begin having symptoms? How would you describe the chest pain?
Gurnett et al. (2008) described a 5-generation family with asymmetric right-sided predominant clubfoot segregating as an autosomal dominant condition with incomplete penetrance. Palmer (1964) suggested that 2 groups may exist: (1) a group with normal sex ratio, normal maternal age curve, recurrence risk of about 10% and probable dominant inheritance with about 40% penetrance; and (2) a group born to younger mothers with preponderance of males and no clear pattern of inheritance. ... The mixed model suggested that the major gene behaves largely as a dominant. Chapman et al. (2000) analyzed the role of major gene and multifactorial inheritance in the etiology of clubfoot in the New Zealand Polynesian population by studying 287 clubfoot families. Using the computer program POINTER, they showed that the best genetic model for clubfoot in this population is a single dominant gene with a penetrance of 33% and a predicted gene frequency of 0.9%. ... Alvarado et al. (2011) screened 40 probands with isolated clubfoot who had at least 1 affected first-degree relative for genomic copy-number variations (CNVs), and identified a 241-kb microdeletion on chromosome 5q31 in 1 proband.
Treatment Because your newborn's bones, joints and tendons are very flexible, treatment for clubfoot usually begins in the first week or two after birth. The goal of treatment is to improve the way your child's foot looks and works before he or she learns to walk, in hopes of preventing long-term disabilities.
Main article: Ponseti method The Ponseti method corrects clubfoot over the course of several stages. Serial casting: First, the foot is manually manipulated into an improved position and held in place with a long leg cast which extends from the toes up to the thigh. ... Ponseti describes the forefoot as pronated in relation to the hindfoot, so supinating the forefoot and elevating the first metatarsal improves this alignment. ... This device is also called a foot abduction brace (FAB). At first, the brace is worn full-time (23 hours per day) on both feet, regardless of whether the clubfoot affects one or two feet. ... French method [ edit ] The French method is a conservative, non-operative method of clubfoot treatment that involves daily physical therapy for the first two months followed by thrice-weekly physical therapy for the next four months and continued home exercises following the conclusion of formal physical therapy. ... In Flannery O'Connor 's short story " The Lame Shall Enter First ", the character Johnson has clubfoot, a major symbol of the story.
Familial clubfoot with or without associated lower limb anomalies is a rare congenital limb malformation syndrome characterized by malalignment of the bones and joints of the foot and ankle, with presence of forefoot and midfoot adductus, hindfoot varus, and ankle equinus, presenting as rigid inward turning of the foot towards the midline, in various members of a single family. Hypoplasia of lower leg muscles is a frequently associated finding. Patients may present with other low-limb malformations, such as patellar hypoplasia, oblique talus, tibial hemimelia, and polydactyly.
The disorder is either slowly progressive or nonprogressive, and affected individuals retain ambulation, although there is variable severity. MYPOP can show both autosomal dominant and autosomal recessive inheritance; the phenotype is similar in both forms (summary by Lossos et al., 2005 and Tajsharghi et al., 2014). Clinical Features Autosomal Dominant Inheritance Darin et al. (1998) described a multigeneration Swedish family with an apparently novel myopathy inherited as an autosomal dominant. ... All patients had onset of symptoms in childhood, although some first presented as adults. All were ambulatory and some had participated in sports as youths. ... Inheritance The transmission pattern of myopathy with congenital joint contractures in the family reported by Darin et al. (1998) was consistent with autosomal dominant inheritance. The transmission pattern of MYPOP in the families reported by Lossos et al. (2005) and Tajsharghi et al. (2014) was consistent with autosomal recessive inheritance. ... Functional studies of the variants were not performed, but Tajsharghi et al. (2014) noted that paralogous mutations in other MYH genes (e.g., MYH3, 160720 and MYH7, 160760) had been identified in patients with other muscular disorders. INHERITANCE - Autosomal dominant - Autosomal recessive HEAD & NECK Face - Myopathic facies Eyes - Ophthalmoplegia, external - Ptosis (in some patients) Mouth - High-arched palate Neck - Neck muscle weakness CHEST Ribs Sternum Clavicles & Scapulae - Scapular winging (in some patients) SKELETAL - Contractures at birth (in some patients) Spine - Scoliosis (in some patients) MUSCLE, SOFT TISSUES - Proximal muscle weakness - Upper and lower limbs affected - Generalized muscle weakness - Distal muscle weakness (in some patients) - Muscle biopsy shows predominance of type 1 fibers - Muscle biopsy shows loss of type 2A fibers - Fiber size variability - Internal nuclei (in some patients) - Intranuclear inclusions (1 family) NEUROLOGIC Central Nervous System - Waddling gait (in some patients) MISCELLANEOUS - Variable age at onset - Variable severity - Nonprogressive or very slowly progressive - Contractures at birth or difficulties in the neonatal period resolve - Relatively mild phenotype MOLECULAR BASIS - Caused by mutation in the myosin, heavy chain 2, adult skeletal muscle gene (MYH2, 160740.0001 ) ▲ Close
A rare, genetic, non-dystrophic myopathy disease characterized by childhood-onset severe external ophthalmoplegia, typically without ptosis, associated with mild, very slowly progressive muscular weakness and atrophy, involving the facial, neck flexor and limb (upper > lower, proximal > distal) muscles. Muscle biopsy shows type 1 fiber uniformity, absent, or abnormally small, type 2A fibers, increased variability of fiber size, internalized nuclei and/or fatty infiltration.
A rare genetic neuromuscular disease characterized by early onset of proximal or generalized muscle weakness, external ophthalmoplegia with or without ptosis, and joint contractures. Hypotonia, neonatal respiratory distress necessitating ventilation, and severe dysphagia have also been reported. The disease is of variable severity and non- or slowly progressive. Patients typically remain ambulatory. Muscle biopsy may show predominance of type 1 fibers, marked variability in fiber size, increased internal nuclei, and proliferation of perimysial and endomysial connective tissue.
In a 27-week-old male fetus with JBTS13, Srour et al. (2015) identified compound heterozygous mutations in the TCTN1 gene (609863.0001 and 609863.0002). The mutations were found by whole-exome sequencing. Functional studies and studies of patient cells were not performed.
Super-potent topical corticosteroids may be applied on the whole-body surface or tapering doses of prednisolone 0.5 mg/kg/day, frequently associated with dapsone.
Clinical Features Novarino et al. (2014) performed whole-exome sequencing network analysis to identify mutations in consanguineous families with hereditary spastic paraplegia.
Autosomal recessive spastic paraplegia type 64 is an extremely rare and complex form of hereditary spastic paraplegia (see this term), reported in only 4 patients from 2 families to date, characterized by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the ENTPD1 gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1.
Molecular Genetics In 2 sibs, born of consanguineous Algerian parents, with autosomal congenital deafness, Behlouli et al. (2014) identified a homozygous truncating mutation in the EPS8 gene (Q30X; 600206.0001). The mutation was found by whole-exome sequencing. Behlouli et al. (2014) noted that the EPS8 gene is expressed in the hair bundle, the sensory antenna of the auditory sensory cells of the cochlea that operate mechanoelectrical transduction necessary for hearing, and that Eps8-null mice are profoundly deaf, with abnormally short hair bundle stereocilia (see ANIMAL MODEL).
The mutation was found by a combination of homozygosity mapping and whole-exome sequencing. Functional studies of the variant were not performed, but Ahmed et al. (2014) noted that because the DNAL4 gene is thought to be part of the axonemal complex of dynein molecules, the mutation may interrupt protein interactions and cause disruption of dynein function, resulting in abnormal directional axonal growth.
The mutations were found by a combination of linkage analysis and whole-exome sequencing. Fibroblasts that were derived from 1 patient, an unaffected family member, and a control were reprogrammed to form neural cells and showed no differences in survival, differentiation, dendritic complexity, or nuclear morphology; however, patient-derived cells showed a 43% reduction in synaptic density compared to the other 2 cell lines.
At 4.75 years of age, his height and weight were -2.7 SD and -2.5 SD, respectively, and his head circumference was 51 cm (0.3 SD). Molecular Genetics By whole-exome sequencing in a 4.75-year-old Italian boy with Meier-Gorlin syndrome, Vetro et al. (2017) excluded mutation in known MGORS-associated genes and identified compound heterozygosity for a 2-bp deletion (602696.0001) and a missense mutation (602696.0002) in the MCM5 gene.
Molecular Genetics In a large consanguineous family of Pakistani origin segregating autosomal recessive postaxial polydactyly of the feet, Umair et al. (2017) performed whole-exome sequencing and identified a homozygous splice site variant in the IQCE gene (617631.0001) that segregated with disease.
The mutation, which was found by a combination of homozygosity mapping and whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family.
Molecular Genetics In an 11-year-old girl, born of consanguineous Algerian parents, with FVH, Belkaya et al. (2019) identified a homozygous 40-bp deletion in the IL18BP gene (604113.0001), resulting in splicing abnormalities and complete IL18BP deficiency. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family.
The mutation, which was found by a combination of linkage analysis (Cheng et al., 2003) and whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family.
