Compound heterozygosity for a whole gene deletion and p.R124C mutation in CYP21A2 causing nonclassic congenital adrenal hyperplasia

Hamza Nasir,Syed Ibaad Ali,Naeem Haque,Stefan K. Grebe,Salman Kirmani 대한소아내분비학회 2018 Annals of Pediatirc Endocrinology & Metabolism Vol.23 No.3

We present a family with 2 members who received long-term steroid treatment for presumed classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, until molecular testing revealed nonclassic CAH, not necessarily requiring treatment. A 17-year-old male presented to our clinic on glucocorticoid and mineralocorticoid treatment for classic CAH. He was diagnosed at 4 years of age based on mild-moderate elevations of 17-hydroxyprogesterone (17-OHP) and adrenocorticotropic hormone (ACTH), but without evidence of precocious adrenarche/puberty. Due to his diagnosis, his clinically asymptomatic 3-year-old sister was tested and also found to have elevated ACTH and 17-OHP levels and was started on glucocorticoids for classic CAH. Family history revealed a healthy sibling who had no biochemical evidence of CAH and consanguineous healthy parents. We questioned the diagnosis of classic CAH and performed an ACTH1-24 stimulation test, which showed a level of 17-OHP in the borderline range between classic and nonclassic CAH. Molecular testing, using sequencing and multiplex ligation-dependent probe amplification analysis of CYP21A2, revealed that both affected siblings were compound heterozygotes for a whole-gene deletion and a, likely pathogenic (nonclassical), sequence variant, p.R124C. The asymptomatic father had the same genotype, while the mother showed one deleted copy and 2 active copies, making her an asymptomatic carrier. Our report demonstrates the importance of molecular testing in atypical cases of CAH, as well as the importance of both sequencing and deletion analysis. The results of molecular testing should be interpreted in clinical context, and treatment should be prescribed according to guidelines when available.

High Diversity Transceiver for Low Power Differentially Encoded OFDM System

Faisal Nadeem,Muhammad Zia,Hasan Mahmood,Naeem Bhatti,Ihsan Haque 한국전자통신연구원 2016 ETRI Journal Vol.38 No.1

In this work, we investigate differentially encoded blind transceiver design in low signal-to-noise ratio (SNR) regimes for orthogonal frequency-division multiplexing (OFDM) signaling. Owing to the fact that acquisition of channel state information is not viable for short coherence times or in low SNR regimes, we propose a time-spread frequency-encoded method under OFDM modulation. The repetition (spreading) of differentially encoded symbols allows us to achieve a target energy per bit to noise ratio and higher diversity. Based on the channel order, we optimize subcarrier assignment for spreading (along time) to achieve frequency diversity of an OFDM modulated signal. We present the performance of our proposed transceiver design and investigate the impact of Doppler frequency on the performance of the proposed differentially encoded transceiver design. To further improve reliability of the decoded data, we employ capacity-achieving low-density parity-check forward error correction encoding to the information bits.

Effects of prilled fat supplementation in diets with varying protein levels on production performance of early lactating Nili Ravi Buffaloes

Anwar Saba,Khalique Anjum,Hifzulrahman,Tahir Muhammad Naeem,Azam Burhan E,Tausif Muhammad Asim,Qamar Sundas,Tahir Hina,Tipu Murtaza Ali,Haque Muhammad Naveed ul 아세아·태평양축산학회 2024 Animal Bioscience Vol.37 No.8

Objective: The objective of the current study was to find out the independent and interactive effects of prilled fat supplementation with protein on the production performance of early lactating Nili Ravi buffaloes.Methods: Sixteen early lactating buffaloes (36.75±5.79 d in milk; mean±standard error) received 4 treatments in 4×4 Latin-square design according to 2×2 factorial arrangements. The dietary treatments were: i) low protein low fat, ii) low protein high fat, iii) high protein low fat, and iv) high protein high fat. The dietary treatments contained 2 protein (8.7% and 11.7% crude protein) and fat levels (2.6% and 4.6% ether extract) on a dry matter basis.Results: The yields of milk and fat increased with increasing protein and fat independently (p≤0.05). Energy-, protein-, and fat-corrected milk yields also increased with increasing protein and fat independently (p≤0.05). Increasing dietary protein increased the protein yield by 3.75% and lactose yield by 3.15% and increasing dietary fat supplies increased the fat contents by 3.93% (p≤0.05). Milk yield and fat-corrected milk to dry matter intake ratios were increased at high protein and high fat levels (p≤0.05). Milk nitrogen efficiency was unaffected by dietary fat (p>0.10), whereas it decreased with increasing protein supplies (p≤0.05). Plasma urea nitrogen and cholesterol were increased by increasing protein and fat levels, respectively (p≤0.05). The values of predicted methane production reduced with increasing dietary protein and fat.Conclusion: It is concluded that prilled fat and protein supplies increased milk and fat yield along with increased ratios of milk yield and fat-corrected milk yields to dry matter intake. However, no interaction was observed between prilled fat and protein supplementation for production parameters, body weight, body condition score and blood metabolites. Predicted methane production decreased with increasing protein and fat levels. Objective: The objective of the current study was to find out the independent and interactive effects of prilled fat supplementation with protein on the production performance of early lactating Nili Ravi buffaloes. Methods: Sixteen early lactating buffaloes (36.75±5.79 d in milk; mean±standard error) received 4 treatments in 4×4 Latin-square design according to 2×2 factorial arrangements. The dietary treatments were: i) low protein low fat, ii) low protein high fat, iii) high protein low fat, and iv) high protein high fat. The dietary treatments contained 2 protein (8.7% and 11.7% crude protein) and fat levels (2.6% and 4.6% ether extract) on a dry matter basis. Results: The yields of milk and fat increased with increasing protein and fat independently (p≤0.05). Energy-, protein-, and fat-corrected milk yields also increased with increasing protein and fat independently (p≤0.05). Increasing dietary protein increased the protein yield by 3.75% and lactose yield by 3.15% and increasing dietary fat supplies increased the fat contents by 3.93% (p≤0.05). Milk yield and fat-corrected milk to dry matter intake ratios were increased at high protein and high fat levels (p≤0.05). Milk nitrogen efficiency was unaffected by dietary fat (p>0.10), whereas it decreased with increasing protein supplies (p≤0.05). Plasma urea nitrogen and cholesterol were increased by increasing protein and fat levels, respectively (p≤0.05). The values of predicted methane production reduced with increasing dietary protein and fat. Conclusion: It is concluded that prilled fat and protein supplies increased milk and fat yield along with increased ratios of milk yield and fat-corrected milk yields to dry matter intake. However, no interaction was observed between prilled fat and protein supplementation for production parameters, body weight, body condition score and blood metabolites. Predicted methane production decreased with increasing protein and fat levels.

Prognostically Significant Fusion Oncogenes in Pakistani Patients with Adult Acute Lymphoblastic Leukemia and their Association with Disease Biology and Outcome

Sabir, Noreen,Iqbal, Zafar,Aleem, Aamer,Awan, Tashfeen,Naeem, Tahir,Asad, Sultan,Tahir, Ammara H,Absar, Muhammad,Hasanato, Rana MW,Basit, Sulman,Chishti, Muhammad Azhar,Ul-Haque, Muhammad Faiyaz,Khali Asian Pacific Journal of Cancer Prevention 2012 Asian Pacific journal of cancer prevention Vol.13 No.7

Background and objectives: Chromosomal abnormalities play an important role in genesis of acute lymphoblastic leukemia (ALL) and have prognostic implications. Five major risk stratifying fusion genes in ALL are BCR-ABL, MLL-AF4, ETV6-RUNX11, E2A-PBX1 and SIL-TAL1. This work aimed to detect common chromosomal translocations and associated fusion oncogenes in adult ALL patients and study their relationship with clinical features and treatment outcome. Methods: We studied fusion oncogenes in 104 adult ALL patients using RT-PCR and interphase-FISH at diagnosis and their association with clinical characteristics and treatment outcome. Results: Five most common fusion genes i.e. BCR-ABL (t 9; 22), TCF3-PBX1 (t 1; 19), ETV6-RUNX1 (t 12; 21), MLL-AF4 (t 4; 11) and SIL-TAL1 (Del 1p32) were found in 82/104 (79%) patients. TCF3-PBX1 fusion gene was associated with lymphadenopathy, SIL-TAL1 positive patients had frequent organomegaly and usually presented with a platelets count of less than $50{\times}10^9/l$. Survival of patients with fusion gene ETV6-RUNX1 was better when compared to patients harboring other genes. MLL-AF4 and BCR-ABL positivity characterized a subset of adult ALL patients with aggressive clinical behaviour and a poor outcome. Conclusions: This is the first study from Pakistan which investigated the frequency of5 fusion oncogenes in adult ALL patients, and their association with clinical features, treatment response and outcome. Frequencies of some of the oncogenes were different from those reported elsewhere and they appear to be associated with distinct clinical characteristics and treatment outcome. This information will help in the prognostic stratification and risk adapted management of adult ALL patients.

Effects of peripartal glucose precursor supplementation on lactation performance and metabolic health of primiparous and multiparous dairy cows

Akhtar Muhammad Uzair,Hifzulrahman,Pasha Talat Naseer,Avais Muhammad,Khan Nauman,Chishti Ghazanfar Ali,Ali Mubashar,Imran Muhammad,Tahir Muhammad Naeem,Naveed-ul-Haque Muhammad 아세아·태평양축산학회 2023 Animal Bioscience Vol.36 No.6

Objective: Hyperketonemia remains a major metabolic issue of serious milk production and a major health concern in early lactation cows. Oral supplementation of glucose precursors (GP) can be used to prevent hyperketonemia in dairy cows. The objective of this study was to compare the beneficial effects of orally supplementing a mixture of GP on metabolic health indicators and milk production status of primiparous (PP) and multiparous (MP) dairy cows. Methods: Twenty-eight Holstein cows were blocked by expected date of parturition, previous lactation yield, and parity. The cows were randomly allocated to one of the four treatment groups (n = 7 cows/group) based on their parity and GP supplementation: i) PP cows fed basal diet only (PP-CON), ii) PP cows with oral supplementation of GP (PP-GP), iii) MP cows fed basal diet only (MP-CON), and iv) MP cows with oral supplementation of GP (MP-GP). Glucose precursor (glycoline liquid) was orally drenched (300 mL/d) in GP cows from 7 days prepartum through 7 days postpartum. Other than GP supplementation, all cows were fed similar pre- and postpartum basal diets. Results: In both pre- and postpartum periods, serum glucose concentration was increased, whereas β-hydroxybutyrate and free fatty acids were decreased in GP cows compared with the CON cows. Milk yield and milk components were statistically not different between GP and CON cows over the first 9 week of lactation. The yield of actual milk, energycorrected milk, 63-days cumulative milk, colostrum yield, and calf birth weight remained higher in MP cows compared with PP cows. Conclusion: Oral drenching of GP around calving can be recommended to successfully improve the metabolic health and reduce the negative effects of hyperketonemia not only in MP but also in PP dairy cows.