Dr Farber is a pediatrician in Woodbridge, Virginia.

Jon Matthew Farber, MD

A retrospective study found that young women (postmenarchal) with a renal anomaly (RA) also were at risk of having a Müllerian anomaly (MA). The study group included 326 patients with an RA in whom a pelvic examination revealed a coexisting MA in 125 (38.3%). Of those who underwent the pelvic exam because of pain, about one-third were found to have an MA. The average age for RA diagnosis was 6.4 years and for MA diagnosis 16.4 years. Of the patients with obstructive MAs, 93.8% underwent urgent surgery, with the others started on hormonal suppression.

Patients with what investigators termed “solitary kidney” (true renal agenesis and involuted early multicystic dysplastic kidney [MCDK]) were most likely also to have an MA. In these patients, MA prevalence was 67% and included a 30% risk of an obstructive anomaly. Solitary kidney was the most common RA diagnosis in the study group, seen in 37.6%, but persistent MCDK also posed a 20% to 23% risk of an MA.

These findings support routine screening for an MA in patients with an RA, especially those with a congenital solitary kidney, the authors noted.


There has been controversy over the years about kidney disease and associated conditions (should we image the kidneys in children with isolated preauricular pits?), but this looks to have a more solid evidence base. For technical reasons, screening is best done shortly after menarche. Note that hydronephrosis is not one of the renal disorders that predisposes to MAs.

Fei YF, Smith YR, Wan J, Dendrinos M, Winfrey OK, Quint EH. Should we screen for Müllerian anomalies following diagnosis of a congenital renal anomaly? 

. 2022;S1477-5131(22)001164-4. doi:10.1016/j.jpurol.2022.04.017

Articles

A retrospective study found that postmenarchal women with a renal anomaly were also at risk of having a Müllerian anomaly. 

A renal anomaly? Look for a Müllerian anomaly as well 

Treatment of the various types of spinal muscular atrophy (SMA) with approved therapies results in an array of improvements, according to a review of 22 studies that assessed mid- and long-term (at least 12 months) outcomes in patients with SMA. Three therapies are approved for SMA: nusinersen, onasemnogene abeparvovec, and risdiplam, used alone or in combination, depending on the patient’s SMA type and other factors.

The analysis showed that nusinersen improved motor functions in patients with SMA type 1, while in SMA type 2 to type 4 disease this treatment was associated with patient stabilization or small improvements, though investigators also observed some deterioration. Onasemnogene abeparvovec improved motor functions (such as the ability to sit for at least 30 seconds or stand without support) in patients with SMA type 1, as did combination therapies in these patients. Procedure-related adverse events, generally caused by the lumbar puncture, were reported, though drug-related such events were rare. The authors noted, however, that the studies they reviewed either did not address pulmonary outcomes or reported on them “poorly.”


SMA is a disease we will start diagnosing earlier due to newborn metabolic screening. We now have options for this heretofore untreatable condition. The treatments look beneficial in at least the short term and it is hoped that better data will confirm their value long term, but for now I will cautiously classify them as “promising.”


Erdos J, Wild C. Mid- and long-term (at least 12 months) follow-up of patients with spinal muscular atrophy (SMA) treated with nusinersen, onasemnogene abeparvovec, risdiplam or combination therapies: a systematic review of real-world study data. 

 2022;39:1-10. doi:10.1016/j.ejpn.2022.04.006

Treatment of the various types of spinal muscular atrophy with approved therapies resulted in an array of improvements, according to a review of 22 studies.

Treatments alter the natural progression of SMA

The short answer to this question appears to be no based on an investigation of associations between patterns of growth in infant weight and adult-onset coronary heart disease (CHD).

Using data from national health registers, investigators in Denmark followed 3645 people who were born between 1959 and 1961 for whom they had weight information at birth, at aged 2 weeks, and at aged 1, 2, 3, 4, 6, and 12 months. They then generated 5 sex-specific weight trajectories of infant weight development: very low-moderate increase (11.5% of the study population), low-marked increase (13.9%), low-stable increase (32.4%), average-stable increase (29.8%), and high-moderate increase (12.4%).

Investigators also examined parental socioeconomic and marital status, maternal prepregnancy body mass index (PP-BMI), maternal smoking, parity, birth weight, and gender. Infants in the very low-moderately increasing trajectory group were more often boys, had mothers who had more babies, and had a lower gestational age than those in other trajectory groups. Also, the mothers of the infants in the very low-moderately increasing weight group were more likely to be married, had a lower PP-BMI, and smoked more during pregnancy than the other mothers.

During follow-up, at a median of 31.4 years, 279 people (159 men and 120 women) received a diagnosis of CHD. Individuals with a very low-moderately increasing trajectory developed CHD more often than those with an average-stable increasing trajectory. Though this association persisted after adjustment for maternal factors, it decreased after additional adjustment for preterm birth and parity. Further, the association completely disappeared after adjustment for birth weight. Investigators therefore determined that though very low-moderate increasing weight during infancy was associated with more likelihood of adult CHD, this association was driven by differences in birth weight, not infant weight gain. These findings, they noted, highlight the importance of prenatal exposures.


This is a large and very long-term study. I find it difficult enough to win the weight battle with children in elementary school and up. It’s good to know that I do not seem to have to work on this in plump babies but can let them grow naturally.

 
Blond K, Jensen BW, Petersen J, Baker J, Bjerregaard LG. Trajectories of infant weight gain from birth to 12 months and adult-onset coronary heart disease. 

 2022;S0022-3476(22)00305-5. doi:10.1016/j.jpeds.2022.03.055

Based on an investigation of associations between patterns of growth in infant weight and adult-onset coronary heart disease, the answer seems to be no. 

Do infant weight gain patterns affect adult risk of coronary heart disease?

Most children outgrow an adverse drug reaction to oral antibiotics, according to a retrospective observational study conducted in Iceland.

One to 2 years after an antibiotic provocation test was conducted in 1440 participants aged 5 months to 18 years, investigators conducted a second provocation test in 64 of the 92 participants who showed a possible mild allergic reaction after the first test. Participants received one-tenth of a full standard dose of the same antibiotic they originally received, most often amoxicillin with or without clavulanic acid (85.7%). Late mild reactions, mostly rashes, were seen in 11 participants, and 53 had no reaction at all. Investigators concluded that it is safe to perform an oral antibiotic provocation test after a mild possible allergic reaction and that patients who have a mild reaction to antibiotics at one time may possibly be prescribed the same antibiotic later.

Too many children and adolescents have received an erroneous diagnosis of antibiotic allergy, resulting in the use of less optimal or more expensive medicine. This study indicates that mild

Gu›nadóttir GK, Jónasson G, Clausen M, Sørensen TG, Kristjánsson S. Antibiotic oral provocation challenge in children. Acta Paediatr. 2022;111(5):1056-1060. doi:10.1111/apa.16211

Most children outgrow an adverse drug reaction to oral antibiotics, according to an Icelandic study.

Does that child really have an antibiotic allergy?

Fewer than half of adolescents who receive a diagnosis of a sexually transmitted infection (STI) in an emergency department (ED) filled the prescriptions they were given, according to a telephone survey of teenagers who sought care in the ED and were prescribed outpatient treatment. Mean age of participants was 17.2 years; most were non-Hispanic Black, female, and publicly insured.

Interviewers used a standardized script to administer the survey, which consisted of multiple choice questions. Whereas 12 of 24 participants receiving STI treatment filled their prescriptions at the pharmacy, 10 returned to the ED for treatment (some patients who did not receive treatment in the ED were called back when laboratory results were positive), 2 patients were treated elsewhere, and 2 had no treatment. Fewer than one-third of patients with chlamydia filled their prescription at a pharmacy, compared with more than 75% of those with pelvic inflammatory disease. Interestingly, whereas all teenagers who filled their prescription at the pharmacy told their caregivers about their diagnosis, only half of those who returned to the ED did so.

Survey participants indicated that adhering to the recommended treatment posed challenges, including cost, transportation issues, lack of an insurance card, and knowing how to pick up a prescription. Asked their opinion about alternative ways to overcome obstacles to adherence, nearly all respondents expressed interest in using a mobile device, whereas school-based clinics inspired little interest.

This is a problem in private practice as well as in the ED. Ask teenagers who need treatment if they anticipate having problems getting the prescription and have someone follow up with a phone call. Ensure you get their cell phone number so that you do not have to go through the family.

Sankar MG, Boyle MD, Badolato GM, Tran JQ, Lieberman A, Goyal MK. The adolescent experience of filling prescriptions for the treatment of sexually transmitted infections.

Published online December 24, 2021. doi:10.1016/j.jpag.2021.12.009

A survey saw that of teenagers who sought care in the ED and were prescribed outpatient treatment, fewer than half who received an STI diagnosis filled their prescriptions.

Teens find that adhering to STI treatment isn’t easy

A review of current—but limited— studies on the relationship between diet and acne uncovered evidence that some dietary factors may indeed influence acne development and treatment. The implicated factors include glycemic index, dairy content, dietary fats, and probiotics.

Results of several studies demonstrated that patients with acne who consume diets with a low glycemic load (GL) have fewer lesions than those on high-GL diets, as shown in a study of 31 young men with acne that compared a low-GL diet with a control diet. Other findings reveal that eating chocolate and confections daily is independently and highly associated with acne. In addition, results of 2 randomized controlled trials showed that, compared with a carbohydrate-dense control diet, a low-GL diet reduced the number of acne lesions.

A 3-year prospective study of more than 6000 girls found a link between acne and consumption of full-fat, low-fat, and skim milk but no association with non-milk dairy foods, chocolate, and pizza. Yet a similar study of more than 4000 boys found only a weak association between acne and skim milk, and no association with higher-fat milks. Other findings showed that consuming dairy of some sort is positively linked with acne.

Some results suggests that patients with acne may benefit from increased intake of omega-3 fatty acids or γ-linoleic acid. For example, a randomized controlled trial in 45 patients found that supplementation with these fatty acids significantly reduced the number of lesions compared with no supplementation.

Finally, in a small pilot trial in adult patients with acne, probiotics showed promise for reducing acne lesions, but more study is needed to support these early findings. It also appears that diet significantly affects the efficacy of acne treatment, with maximum absorption linked with a fasted state and no consumption of dairy.

This is an interesting review article, but my takeaway is “Who knows what to do?” Milk and chocolate are low-glycemic foods but may still increase acne. Perhaps trial and error in an individual patient is the way to go (and there certainly are good reasons besides acne prevention to limit chocolate and other sweets).

Baldwin H, Tan J. Effects of diet on acne and its response to treatment. Am J Clin Dermatol. 2021;22(1):55-65. doi:10.1007/ s40257-020-00542-y

For years, teenagers have been told to avoid certain foods to reduce acne. A review article examines the evidence. 