History of Vitamin B6

Author(s):  
Esmond E. Snell
Keyword(s):  
2021 ◽  
pp. 247412642110287
Author(s):  
Diana Driscoll ◽  
David Callanan

Purpose: This work reports retinal findings in an adult patient with vitamin B6 deficiency. Methods: A case review of a single patient is presented. Results: A patient with a Roth-type retinal lesion and a history of nonepileptic seizures was found to have lymphocytic colitis. She was treated with pyridoxine, which resolved her seizures and the white-centered hemorrhage. Conclusions: Vitamin B6 deficiency should be considered in the differential diagnosis of patients presenting with white-centered hemorrhages and a history of nonepileptic seizures.


2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A187-A188
Author(s):  
Nirmal Nair

Abstract Background: Hypophosphatasia is a rare multisystem disease caused by mutations in genes encoding tissue nonspecific alkaline phosphatase, a key player in promoting bone mineralization1. Here we present a case of hypophosphatasia in a patient with history of recurrent fractures and dental caries since childhood. Case Report: Patient is a 52-year-old woman with history of multiple fractures who initially presented for follow up of osteoporosis following an atraumatic ankle fracture. Further questioning revealed a history of 16 atraumatic fractures since the age of 4, involving ankles, toes, and fingers. Several adult teeth had never developed requiring braces to fill in gaps at age 13, dental caries and tooth fractures involving the majority of her adult teeth. DEXA scan in 2019 revealed T score of -2.4 in the left femoral neck. Suspicion for hypophosphatasia in February 2019 following an ankle fracture and patient’s prior history prompted further workup, revealing low serum alkaline phosphatase levels of 29 and 32 (bone fraction 62 percent, liver fraction 38 percent), and Vitamin B6 levels elevated to 66.2. Remainder of workup, with Vitamin D, PTH, Magnesium, and Calcium was normal. A childhood history of multiple atraumatic fractures, various dental issues, with elevated Vitamin B6 and low serum alkaline phosphatase suggested Hypophosphatasia. As bisphosphonates are contraindicated in these patients due to their potential to reduce ALP, teriparatide was initiated. Discussion: Hypophosphatasia involves mutations in tissue nonspecific alkaline phosphatase, a key player in bone mineralization. In normal individuals, this enzyme dephosphorylates inorganic pyrophosphate (PPi), which otherwise inhibits bone mineralization. The mutated TNSALP leads to accumulation of PPi, and thereby unmineralized osteoid.1 Although individual presentations can vary, developmental abnormalities, such as delayed growth, early loss of primary or secondary teeth, or history of multiple fractures are characteristic. Due to the rarity of the disease, and its potential to be confused for more common bone and rheumatologic diseases, diagnosis is often delayed1. Patients in whom suspicion for hypophosphatasia is present, should undergo further testing with bone specific Alkaline phosphatase and Vitamin B6 which would be low and elevated, respectively and may be candidates for enzyme replacement therapy with bone-targeting recombinant alkaline phosphatase1. Traditional treatments such as bisphosphonates potentially decrease ALP and worsen disease, making accurate diagnosis all the more crucial. References1 Bishop N. Clinical management of hypophosphatasia. Clin Cases Miner Bone Metab. 2015;12(2):170–173.


1998 ◽  
Vol 179 (1) ◽  
pp. 135-139 ◽  
Author(s):  
Michal Leeda ◽  
Naghmeh Riyazi ◽  
Johanna I.P. de Vries ◽  
Cornelis Jakobs ◽  
Herman P. van Geijn ◽  
...  

2019 ◽  
Vol 4 (2) ◽  
pp. 106
Author(s):  
Novita Rahayu Lestari ◽  
Suhaema Suhaema ◽  
Ni Ketut Sulendri ◽  
Fifi Lutfiah

Background. Stroke is a cerebrovascular disease (cerebral blood vessel) that is characterized by impaired brain function due to damage or death of brain tissue due to reduced or blocked blood flow and oxygen to the brain. Stroke is influenced by several factors, namely risk factors that cannot be controlled, and risk factors that can be controlled. Risk factors that cannot be controlled include age, gender, smoking habits, and risk factors that can be controlled consisting of a history of hypertension, a history of diabetes mellitus, and hypercholesterolemia. Todetermine the description of the level of consumption of vitamins B6, B12, and folic acid in Stroke Patients Hospitalized in the BRSUD of Tabanan Regency. Research Methods. The type of research conducted is Descriptive Observational. Research Result. Based on age, as many as 5 people (71%). ≥ 55 years old. The sex of the most subjects having strokes was women with 4 people (57%). Distribution of the type of work of the subject is entrepreneur as many as 4 people (57%), civil servants 1 person (14%) and not working as many as 2 people (29%). Nutritional status of 1 person (14%) malnutrition, 1 person (14%) overweight, and 5 people (72%) good nutrition. Subjects with a history of hypertension were 6 people (86%), and those with a history of hypercholesterolemia as many as 2 people (29%). Subjects who had smoking habits were 1 person (14%). The level of consumption of Vitamin B6, B12, and folic acid in stroke patients, it is known that all subjects have a low consumption level (<80%) with details of vitamin B6 (4.50%), B12 (0.29%), Folic Acid (20, 0%). Conclusion. From this study all patients who suffered strokes consumed less vitamin B6, B12, and folic acid.


1964 ◽  
pp. 361-365 ◽  
Author(s):  
Paul György
Keyword(s):  

2019 ◽  
Vol 12 (8) ◽  
pp. e230605
Author(s):  
Jared Freitas ◽  
Patrick Bliven ◽  
Robert Case

A 39-year-old woman with a history of Roux-en-Y gastric bypass (RYGB) surgery and alcohol use presented with a confluent erythematous rash involving the perineum spreading outward to the abdomen, thighs and lower back. She had angular cheilitis and glossitis. The rash was painful and blistering in scattered areas. She was hypotensive and appeared to be in septic or hypovolemic shock at presentation. Serum levels of zinc and vitamin B6 were critically low and biopsy of her rash returned suggestive of a nutritional deficiency as its source. The rash slowly improved over the following 2 weeks with oral zinc and vitamin B6 replacement. The body rash resembled that of infants born with inherited defects in zinc transporters, referred to as acrodermatitis enteropathica (AE). This case may represent an acquired case of AE in the setting of prior RYGB.


Rheumatology ◽  
2021 ◽  
Vol 60 (Supplement_1) ◽  
Author(s):  
Atif Rauf ◽  
Katie E Moss

Abstract Background/Aims  Hypophosphatasia is a metabolic bone disease caused by mutations in the gene encoding tissue-nonspecific alkaline phosphate (TNSALP). Adults present with a variety of manifestations including musculoskeletal pain, calcium pyrophosphate disease (CPPD), dental problems and low trauma fractures. The characteristic finding in hypophosphatasia is a persistently low ALP. Due to the non-specific presentation, hypophosphatasia diagnoses are often delayed and this can result in misdiagnosis and incorrect treatment decisions. This is particularly significant in patients presenting with musculoskeletal pain. Methods  Here we present 12 adults diagnosed with hypophosphatasia after referral to our general rheumatology clinic with musculoskeletal pain over the past decade. A persistently low ALP was established in all patients. Hypophosphatasia was diagnosed by an elevated fasting vitamin B6 and/or a positive genetic test. All patients had a normal DEXA scan. Results  11 patients were female and 1 was male.The average age at presentation to rheumatology clinic was 42 years. All patients had a consistently low ALP. This was first documented at the mean age of 39 years. Mean ALP across all patients was 24 U/L (normal range 60-35). ALP range for all patients was &lt;5 to 58 U/L. Descriptions of pain were diverse. Common features included lower limb pain (92%) and pain with flare ups (42%). The average age of pain onset was 26 years. When considering the mean age at diagnosis of 45 years, this gives a mean diagnostic delay of 19 years. Other features of hypophosphatasia were dental symptoms (83%), CPPD (58%), family history (92%) and fractures (42%). P116 Table 1:No.SexAge at diagnosis of HPP (years)Mean ALPu/L[60-350]Age at first documented low ALP (years)Fasted vitamin B6 result µg[5-50]Urine PEA (phospho ethanol amine)ALPL gene mutationsDEXAMSK featuresCPPDFracturesDentalRelevant family history1F5118.539228NegativeHeterozygousNormalTrochanteric bursitis, leg and buttock pain_____________Left ankleRemoved since early 20sLoss of teeth early in life2F5512.542243Not doneHeterozygousNormalBurning in shoulders, knees, arm pain worse on activity with flare upsConfirmed on x ray___________Dentures since early adulthoodFamily history of hypophosphatasia3F324327196Not doneNot doneNormalJoint pain in lower limbs with flare ups, aching in hands, swelling of fingersClinical diagnosis___________Few fillingsGum disease, multiple tooth removals, history of hypophosphatasia4M543050176NegativeHeterozygousNormalTrochanteric bursitis, pain in ankles and wristsClinical diagnosis______________________Dentures5F2516.523415Small peakHeterozygousNormalUpper back pain, pain in knuckles and left wristChondrocalcinosis on US of hand3 toes, 2 fingersfillingsLost teeth, joint pains, osteoporosis6F323521155Not doneNegativeNormalPain in neck, shoulder, lower back, weakness________________________Decay in primary dentitionDental problems, fractures, joint pains7F542152268Small peakheterozygousNormalEarly morning stiffness, skeletal pain in upper arms and lateral thighs_____________Elbow, lower legDecay since age 10Dentures, osteoarthritis, osteoporosis8F6024.555163Not doneheterozygousNormalWeakness, pain in left side worse with activity_____________Vertebral__________Dentures, arthritis, hypermobility9F4517.541287NegativeheterozygousNormalPain in hands, kneesClinical diagnosisLoose teeth in adulthoodOsteoporosis, dentures, gout, joint/muscle pain10F5113.538359Not doneheterozygousNormalPain in legs, backache, leg stiffness________________________Poor teeth since teenage yearsRheumatoid arthritis11F142721126Marginal increaseVariant of uncertain significanceNormalWrist pain worse on use with flare upsClinical diagnosis___________6 teeth removed in childhood_______________12F7037.561195Not doneNot donenormalTrochanteric bursitis, night pain in right knee, back painChondrocalcinosis on x rayL ankle, rib fractures_________________________Mean age at diagnosis - 45 yearsMean ALP - 24 U/LMean age at first documented low ALP - 39 yearsMean fasting vitamin B6 - 235 µg Conclusion  Our patients experienced a significant diagnostic delay even after the establishment of a persistently low ALP. Various musculoskeletal symptoms were seen and a diagnosis of CPPD was common, affecting 7 of 12 patients (58%). Patients with hypophosphatasia, presenting to rheumatology clinic with musculoskeletal pain, experience significant diagnostic delay. This can be shortened by considering their pain in conjunction with a persistently low ALP, a history of pain earlier in life, dental problems, fractures, CPPD and a positive family history of dental problems, fractures or arthritis. Disclosure  A. Rauf: None. K.E. Moss: None.


Author(s):  
Aria Wibawa ◽  
Iqra Anugerah

Objective: To determine the relationship between obstetric history and maternal nutrition factors to the incidence of crime in children.Methods: This study was an observational analytic study using a case-control method. The subject of this research is the mother of a child criminal offender in Tangerang Juvenile Detention Center who was recruited using a consecutive sampling method. Sampling was conducted in January 2016 to March 2019. Nutrition history data were obtained using an Indonesian version of the Food Frequency Questionnaire.Result : There were 56 mothers of child offenders who met the study inclusion criteria and 38 subjects as controls. A significant obstetric history of violent crime in children is parity (p = 0.006), place of pregnancy control (p <0.001), birth attendants (p <0.001), and place of delivery (p <0.001). A history of nutritional adequacy that was significant for violent crime was fiber (p = 0.012), folic acid (p = 0.033), vitamin B1 (p = 0.046), vitamin B2 (p = 0.013), vitamin B6 (p <0.001), and vitamin C (p <0.001).Conclusion: Obstetric history and maternal nutrition factors influence the incidence of crime in children. Further study about this topic should be done using retrospective cohort method spanning a larger period of time.Keywords: child crime, maternal nutrition,  obstetric history. Abstrak Tujuan: Mengetahui hubungan faktor riwayat obstetri dan nutrisi maternal terhadap kejadian kriminalitas pada anak.Metode: Penelitian ini merupakan penelitian analitik observasional dengan metode case control. Kelompok kasus penelitian ini merupakan ibu dari anak pelaku pidana di Lembaga Pembinaan Khusus Anak Tangerang, sementara kelompok kontrol merupakan ibu dari anak dengan usia remaja bukan pelaku pidana yang berkunjung ke  Poliklinik Obstetri dan Ginekologi RSCM menggunakan metode consecutive sampling pada Januari 2016 hingga Maret 2019. Data yang dikumpulkan berupa riwayat obstetrik melalui wawancara dan riwayat nutrisi yang didapatkan menggunakan kuesioner Food Frequency Questionnaire versi Bahasa Indonesia. Data numerik dianalisis menggunakan uji t tidak berpasangan atau Mann Whitney U, sementara data kategorik dianalisis menggunakan uji Chi square atau Fisher.Hasil: Didapatkan sebanyak 56 subyek ibu dari anak pelaku pidana yang memenuhi kriteria inklusi penelitian dan 38 subyek sebagai kontrol. Riwayat obstetri yang berperan terhadap kejadian kriminalitas pada anak adalah paritas (p = 0,006), tempat kontrol kehamilan (p < 0,001), penolong persalinan (p < 0,001), dan tempat bersalin (p < 0,001). Riwayat kecukupan nutrisi yang bermakna terhadap kejadian kriminalitas adalah serat (p = 0,012), asam folat (p = 0,033), vitamin B1 (p = 0,046), vitamin B2 (p = 0,013), vitamin B6 (p < 0,001), dan vitamin C (p < 0,001).Kesimpulan Faktor riwayat obstetrik dan riwayat nutrisi maternal memiliki pengaruh terhadap perilaku kriminal pada anak. Sebaiknya penelitian selanjutnya dilakukan menggunakan metode kohort dengan jangka waktu yang lebih panjang.Kata kunci:, nutrisi maternal, kriminalitas anak, riwayat obstetrik.


1956 ◽  
Vol 4 (4) ◽  
pp. 313-317 ◽  
Author(s):  
PAUL GYÖRGY
Keyword(s):  

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Anjali Manavalan ◽  
Priyanka Mathias ◽  
Katayoun Khoshbin ◽  
Vafa Tabatabaie

Abstract Introduction: Hypophosphatasia is a rare metabolic bone disease caused by one of several mutations in the ALPL gene which encodes tissue nonspecific alkaline phosphatase (ALP). It is usually diagnosed in childhood and can have a heterogenous clinical presentation depending on the extent of enzyme deficiency. Here we report the oldest known patient with hypophosphatasia. Clinical Case: A 79-year-old woman with a history of medullary thyroid cancer (MTC) in remission, was referred to our metabolic bone disease clinic for the evaluation and treatment of osteopenia. She had suffered from numerous musculoskeletal complaints for several years and had received a diagnosis of polymyalgia rheumatica. However, her symptoms persisted despite a six month trial of prednisone. Although she had developed dental caries at a young age, she denied premature tooth loss. Her family history was significant for arthralgias and vertebral disc disorders in multiple family members, including both her children. Her mother carried a diagnosis of rheumatoid arthritis and osteoporosis. The only pertinent physical exam finding was short stature (Height -4’6”). A DEXA scan was performed using a Hologic unit and revealed a T Score of -1.0 at the L-spine and -1.9 at the femoral neck. A FRAX score predicted a 14% risk of major osteoporotic fracture and 4% risk of hip fracture. Laboratory data revealed: Serum Calcium 9.3 (8.5-10.5 mg/dL), Albumin 4.3 (3.5-5.0 g/dL), ALP 21 (&lt;130 U/L), Vitamin D 25OH 46.2 (&gt;30 ng/ml), Intact PTH 28.3 (15.0-65.0 pg/ml), Vitamin B6 87.7 (2-21 ng/ml). On review of her medical record, low ALP levels ranging between 20-30 U/L were noted to be present for the last twenty years. Given her history of musculoskeletal complaints, short stature, elevated Vitamin B6 and low ALP, genetic testing for hypophosphatasia was performed. Her results confirmed a known pathogenic mutation in the ALPL gene. Conclusion: This case highlights the importance of reviewing ALP levels and relevant patient history to rule out hypophosphatasia prior to initiating therapy for osteoporosis. This condition is often unrecognized. Bisphosphonates, which are often the first line of treatment in osteoporosis, are contraindicated in hypophosphatasia as they can increase the risk of atypical fractures.1 Teriparatide may improve bone density depending on the extent of ALP deficiency. Asfotase alfa is a new agent that is currently available for the management of certain cases of hypophosphatasia. References: 1.”Atypical femoral fractures”during bisphosphonate exposure in adult hypophosphatasia; Sutton,RA; Mumm,S;Coburn SP; Ericson,KL; Whyte, MP; Journal of Bone and Mineral Research 2012 May;27(5):987-94.


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